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Hyperkalemia is an elevated blood level (above 5.0 mmol/L) of the electrolyte potassium. The prefix hyper- means high (contrast with hypo-, meaning low). The middle kal refers to kalium, which is Latin for potassium. The end portion of the word, -emia, means "in the blood". Extreme degrees of hyperkalemia are considered a medical emergency due to the risk of potentially fatal arrhythmias. Image by Daniel Mayer. ...
General Name, Symbol, Number potassium, K, 19 Chemical series alkali metals Group, Period, Block 1, 4, s Appearance silvery white Atomic mass 39. ...
The International Statistical Classification of Diseases and Related Health Problems (commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ...
The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ...
// E00-E35 - Endocrine diseases (E00-E07) Disorders of thyroid gland (E00) Congenital iodine-deficiency syndrome (E01) Iodine-deficiency-related thyroid disorders and allied conditions (E02) Subclinical iodine-deficiency hypothyroidism (E03) Other hypothyroidism (E030) Congenital hypothyroidism with diffuse goitre (E031) Congenital hypothyroidism without goitre (E032) Hypothyroidism due to medicaments and other...
The International Statistical Classification of Diseases and Related Health Problems (commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ...
The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ...
The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ...
MedlinePlus (medlineplus. ...
eMedicine is an online clinical medical knowledge base that was founded in 1996. ...
Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ...
An electrolyte is a substance containing free ions which behaves as an electrically conductive medium. ...
General Name, Symbol, Number potassium, K, 19 Chemical series alkali metals Group, Period, Block 1, 4, s Appearance silvery white Atomic mass 39. ...
Latin is an ancient Indo-European language originally spoken in Latium, the region immediately surrounding Rome. ...
A medical emergency is an injury or illness that poses an immediate threat to a persons health or life which requires help from a doctor or hospital. ...
A cardiac arrhythmia, also called cardiac dysrhythmia, is a disturbance in the regular rhythm of the heartbeat. ...
Signs and symptoms Symptoms are fairly nonspecific, and generally include malaise, palpitations and muscle weakness; mild breathlessness may indicate metabolic acidosis, one of the settings in which hyperkalemia may occur. Often, however, the problem is detected during screening blood tests for a medical disorder, or it only comes to medical attention after complications have developed, such as cardiac arrhythmia or sudden death. Malaise is a term used to refer to a general state of discomfort, tiredness, or illness. ...
A palpitation is an abnormal, rapid beating of the heart, brought on by overexertion, disease or drugs. ...
Muscle weakness (or lack of strength) is a general term used during a diagnosis before the etiology can be identified. ...
In medicine, metabolic acidosis is a state in which the blood pH is low (under 7. ...
Blood tests are laboratory tests done on blood to gain an appreciation of disease states and the function of organs. ...
Cardiac arrhythmia is a group of conditions in which the muscle contraction of the heart is irregular or is faster or slower than normal. ...
A cardiac arrest, or circulatory arrest, is the abrupt stop of normal circulation of the blood due to failure of the heart to contract effectively during systole. ...
During the medical history taking, a doctor will dwell on kidney disease and medication use (see below), as these are the main causes. The combination of abdominal pain, hypoglycemia and hyperpigmentation, often in the context of a history of other autoimmune disorders, may be signs of Addison's disease, itself a medical emergency. Nephrology is the branch of internal medicine dealing with the study of the function and diseases of the kidney. ...
Oral medication A medication is a licenced drug taken to cure or reduce symptoms of an illness or medical condition. ...
Abdominal pain can be one of the symptoms associated with transient disorders or serious disease. ...
Hypoglycemia (hypoglycæmia in the UK) is a medical term referring to a pathologic state produced by a lower than normal amount of sugar (glucose) in the blood. ...
In dermatology, hyperpigmentation is the darkening of an area of skin or nails caused by increased melanin. ...
Autoimmune diseases arise from an overactive immune response of the body against substances and tissues normally present in the body. ...
Addisons disease (also known as chronic adrenal insufficiency, or hypocortisolism) is a rare endocrine disorder which results in the body not producing sufficient amounts of certain adrenal hormones. ...
Diagnosis In order to gather enough information for diagnosis, the measurement of potassium needs to be repeated, as the elevation can be due to hemolysis in the first sample. Generally, blood tests for renal function (creatinine, blood urea nitrogen), glucose and occasionally creatine kinase and cortisol will be performed. Calculating the trans-tubular potassium gradient can sometimes help in distinguishing the cause of the hyperkalemia. Hemolysis (alternative spelling haemolysis) literally means the excessive breakdown of red blood cells. ...
In medicine (nephrology) renal function is an indication of the state of the kidney and its role in physiology. ...
Chemical structure of creatinine. ...
The blood urea nitrogen (BUN) test is a measure of the amount of nitrogen in the blood that comes from urea. ...
Glucose (Glc), a monosaccharide (or simple sugar), is the most important carbohydrate in biology. ...
Creatine Kinase Creatine kinase (CK), also known as phosphocreatine kinase or creatine phosphokinase (CPK) is an enzyme (EC 2. ...
Cortisol is a corticosteroid hormone produced by the adrenal cortex that is involved in the response to stress; it increases blood pressure, blood sugar levels, may cause infertility in women, and suppresses the immune system. ...
The trans-tubular potassium gradient (TTKG) is an index reflecting the conservation of potassium in the cortical collecting ducts of the kidneys. ...
Electrocardiography (ECG) is generally done early to identify any influences on the heart. High, tent-shaped T-waves, a small P wave and a wide QRS complex (that becomes sinusoidal) all identify the influence of excess potassium on the heart. This finding alone is an important reason for treatment, as it may precede ventricular fibrillation. ECG may also refer to the East Coast Greenway Lead II An Electrocardiogram (ECG or EKG, abbreviated from the German Elektrokardiogramm) is a graphic produced by an electrocardiograph, which records the electrical voltage in the heart in the form of a continuous strip graph. ...
The QRS complex is a record of the measurement of the movement of electrical impulses through the lower heart chambers (ventricles). ...
Ventricular fibrillation (V-fib or VF) is a cardiac condition which consists of a lack of coordination of the contraction of the muscle tissue of the large chambers of the heart that eventually leads to the heart stopping altogether. ...
Often arterial blood gas measurements and renal ultrasound will be performed. Arterial blood gas measurement is a blood test that is performed to determine the concentration of oxygen, carbon dioxide and bicarbonate, as well as the pH, in the blood. ...
Medical ultrasonography (sonography) is an ultrasound-based diagnostic imaging technique used to visualize muscles and internal organs, their size, structures and possible pathologies or lesions. ...
Differential diagnosis Causes include:
Ineffective elimination from the body - Renal insufficiency
- Medication that interferes with urinary excretion:
- Mineralocorticoid deficiency or resistance, such as:
- Gordon's syndrome (“familial hypertension with hyperkalemia”), a rare genetic disorder caused by defective modulators of salt transporters, including the thiazide-sensitive Na-Cl cotransporter.
Renal failure is when the kidneys fail to function properly. ...
Oral medication A medication is a licenced drug taken to cure or reduce symptoms of an illness or medical condition. ...
Captopril, the first ACE inhibitor ACE inhibitors, or inhibitors of Angiotensin-Converting Enzyme, are a group of pharmaceuticals that are used primarily in treatment of hypertension and congestive heart failure, in most cases as the drugs of first choice. ...
Angiotensin II receptor antagonists, also known as angiotensin receptor blockers (ARBs) or AT1-receptor antagonists, are a group of pharmaceuticals which modulate the renin-angiotensin-aldosterone system. ...
A diuretic (colloquially called a water pill) is any drug or herb that elevates the rate of bodily urine excretion (diuresis). ...
Amiloride is an antihypertensive, a potassium-sparing diuretic that was first approved for use in 1967 and helps to treat hypertension and congestive heart failure. ...
Spironolactone (marketed as Aldactone®, Novo-Spiroton®, Spiractin®, Spirotone®, or Berlactone®) is a synthetic 17-lactone steroid which is a renal competitive aldosterone antagonist in a class of pharmaceuticals called potassium-sparing diuretics, used primarily to treat ascites in patients with liver disease, low-renin hypertension, hypokalemia, and Conns syndrome. ...
Wikipedia does not yet have an article with this exact name. ...
Ibuprofen (INN) (IPA: ) is a non-steroidal anti-inflammatory drug (NSAID) originally marketed as Nurofen and since under various trademarks including Act-3, Advil, Brufen, Dorival, Herron Blue, Panafen, Motrin, Nuprin and Ipren or Ibumetin (Sweden), Ibuprom (Poland), Moment (Italy). ...
Naproxen (trade names: Aleve, Anaprox, Naprogesic, Naprosyn, Naprelan) is a non-steroidal anti-inflammatory drug (NSAID) commonly used for the reduction of mild to moderate pain, fever, inflammation and stiffness caused by conditions such as osteoarthritis, rheumatoid arthritis, psoriatic arthritis, gout, ankylosing spondylitis, injury, menstrual cramps, tendinitis, bursitis, and the...
Celecoxib is a medicinal drug best known as a Pfizer product with the brand name Celebrex. ...
For a list of immunosuppressive drugs, see the transplant rejection page. ...
Ciclosporin (INN), cyclosporine or cyclosporin (former BAN), is an immunosuppressant drug. ...
Tacrolimus is an immunosuppressive drug. ...
Trimethoprim is a bacteriostatic antibiotic mainly used in the prophylaxis and treatment of urinary tract infections (cystitis). ...
Pentamidine isethionate is a drug primarily given for prevention and treatment of Pneumocystis carinii pneumonia (PCP), a type of pneumonia often seen in people with HIV infection. ...
Mineralocorticoids is a class of steroids characterised by their similarity to aldosterone and their influence on salt and water metabolism. ...
Addisons disease (also known as chronic adrenal insufficiency, or hypocortisolism) is a rare endocrine disorder which results in the body not producing sufficient amounts of certain adrenal hormones. ...
Heparin is a highly sulfated glycosaminoglycan widely used as an injectable anticoagulant. ...
Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. ...
Hyperchloremic acidosis is a form of Metabolic acidosis associated with a normal anion gap, a decrease in bicarbonate, and in increase in chloride. ...
Thiazide-sensitive Na/Cl cotransporter (TSC1) is a symporter located on the lumen side of the distal convoluted tubule (DCT) in the kidney. ...
Excessive release from cells Rhabdomyolysis is the breakdown of skeletal muscle due to injury, either mechanical, physical or chemical. ...
This article or section does not adequately cite its references or sources. ...
Necrosis (in Greek ÎεκÏÏÏ = Death) is the name given to accidental death of cells and living tissue. ...
In medicine (oncology and hematology), tumor lysis syndrome is a complication of chemotherapy to particularly large tumors (e. ...
Donating blood Blood transfusion is the process of transferring blood or blood-based products from one person into the circulatory system of another. ...
Hemolysis (alternative spelling haemolysis) literally means the excessive breakdown of red blood cells. ...
Acidosis is an increased acidity (i. ...
Insulin (from Latin insula, island, as it is produced in the Islets of Langerhans in the pancreas) is a polypeptide hormone that regulates carbohydrate metabolism. ...
Beta blockers (sometimes written as β-blockers) are a class of drugs used for various indications, but particularly for the management of cardiac arrhythmias and cardioprotection after myocardial infarction. ...
Digoxin is a cardiac glycoside extracted from the foxglove plant, digitalis. ...
Suxamethonium chloride (also known as succinylcholine, or scoline) is a white crystalline substance, it is odourless and highly soluble in water. ...
Excessive intake - Intoxication with salt-substitute, potassium-containing dietary supplements, or potassium-chloride (KCl) infusion. Note that for a person with normal kidney function and nothing interfering with normal elimination (see above), hyperkalemia by potassium intoxication would be seen only with large infusions of KCl or massive doses of oral KCl supplements.
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KCL may stand for Kirchoffs current law: an electronic circuit analysis law discovered by Gustav Kirchhoff Kings College London: one of the largest colleges in the federal University of London This is a disambiguation page, a list of pages that otherwise might share the same title. ...
Lethal injection Hyperkalemia is intentionally brought about in an execution by lethal injection, potassium chloride being the third and last of the three drugs generally administered to cause death, after sodium thiopental has rendered the subject unconscious, then pancuronium bromide has been added to cause respiratory collapse. Lethal injection involves injecting a person with fatal doses of drugs to cause death. ...
The chemical compound potassium chloride (KCl) is a metal halide composed of potassium and chlorine. ...
Sodium thiopental also called Sodium Pentothal (a trademark of Abbott Laboratories), thiopental, thiopentone sodium, or trapanal is a rapid-onset, short-acting barbiturate general anesthetic. ...
Pancuronium bromide is a chemical compound, used in medicine with the brand name Pavulon® (Organon Pharmaceuticals). ...
Pathophysiology Potassium is the most abundant intracellular cation. It is critically important for many physiologic processes, including maintenance of cellular membrane potential, homeostasis of cell volume, and transmission of action potentials in nerve cells. Its main dietary sources are vegetables (tomato and potato), fruits (orange and banana) and meat. Elimination is through the gastrointestinal tract and the kidney. In cell biology, molecular biology and related fields, the word intracellular means inside the cell. It is used in contrast to extracellular (outside the cell). ...
A cation is an ion with positive charge. ...
This article or section is in need of attention from an expert on the subject. ...
It has been suggested that Reactive homeostasis be merged into this article or section. ...
A. A schematic view of an idealized action potential illustrates its various phases as the action potential passes a point on a cell membrane. ...
Neurons (also called nerve cells) are the primary cells of the nervous system. ...
Vegetables in a market Venn diagram representing the relationship between (botanical) fruits and vegetables. ...
Binomial name Solanum lycopersicum L. Percentages are relative to US recommendations for adults. ...
Binomial name Solanum tuberosum L. There are twenty-three different types of potato in the world. ...
Binomial name Citrus sinensis (L.) Osbeck Orangeâspecifically, sweet orangeârefers to the citrus tree Citrus sinensis (syn. ...
This article or section does not cite its references or sources. ...
Mortal Kombat character, see Meat (Mortal Kombat). ...
The gastrointestinal tract (GI tract), also called the digestive tract, alimentary canal, or gut, is the system of organs within multicellular animals that takes in food, digests it to extract energy and nutrients, and expels the remaining waste. ...
It has been suggested that Renal anomalies and Renal plasma threshold be merged into this article or section. ...
The renal elimination of potassium is passive (through the glomeruli), and resorption is active in the proximal tubule and the ascending limb of the loop of Henle. There is active excretion of potassium in the distal tubule and the collecting duct; both are controlled by aldosterone. Glomerulus refers to two unrelated structures in the body, both named for their globular form. ...
In the biology of the kidney, the proximal convoluted tubule is the segment of the renal tubule that drains Bowmans capsule. ...
In the kidney, the loop of Henle is the portion of the nephron that leads from the proximal convoluted tubule to the distal convoluted tubule. ...
Kidney nephron The distal convoluted tubule (DCT) is a portion of kidney nephron between the loop of Henle and the collecting duct system. ...
The collecting duct system of the kidney consists of: The connecting tubule The cortical collecting duct The medullary collecting duct Categories: Urinary system ...
Aldosterone is a steroid hormone synthesized from cholesterol by the enzyme aldosterone synthase. ...
Hyperkalemia develops when there is excessive production (oral intake, tissue breakdown) or ineffective elimination of potassium. Ineffective elimination can be hormonal (in aldosterone deficiency) or due to causes in the renal parenchyma that impair excretion. Aldosterone is a steroid hormone synthesized from cholesterol by the enzyme aldosterone synthase. ...
Increased extracellular potassium levels result in depolarization of the membrane potentials of cells. This depolarization opens some voltage-gated sodium channels, but not enough to generate an action potential. After a short while, the open sodium channels inactivate and become refractory, increasing the threshold to generate an action potential. This leads to the impairment of neuromuscular, cardiac, and gastrointestinal organ systems. Of most concern is the impairment of cardiac conduction which can result in ventricular fibrillation or asystole. In biology, depolarization is the event a cell undergoes when its membrane potential grows more positive with respect to the extracellular solution. ...
Sodium channels are integral membrane proteins that exist in a cells plasma membrane and regulate the flow of sodium (Na+) ions into it. ...
A refractory period, in physiology, is a period of time during which an organ or cell is incapable of performing a particular action. ...
This page is about the muscular organ, the Heart. ...
For the Physics term GUT, please refer to Grand unification theory The gastrointestinal or digestive tract, also referred to as the GI tract or the alimentary canal or the gut, is the system of organs within multicellular animals which takes in food, digests it to extract energy and nutrients, and...
Ventricular fibrillation (V-fib or VF) is a cardiac condition which consists of a lack of coordination of the contraction of the muscle tissue of the large chambers of the heart that eventually leads to the heart stopping altogether. ...
In medicine, asystole is a state of no cardiac electrical activity, hence no contractions of the myocardium and no cardiac output or blood flow. ...
Patients with the rare hereditary condition of hyperkalemic periodic paralysis appear to have a heightened sensitivity of muscular symptoms that are associated with transient elevation of potassium levels. Episodes of muscle weakness and spasms can be precipitated by exercise or fasting in these subjects. Hyperkalemic periodic paralysis (HYPP), also known as Impressive Syndrome, is an inherited autosomal dominant disorder which affects sodium channels in muscle cells and the ability to regulate potassium levels in the blood of horses. ...
Treatment When arrhythmias occur, or when potassium levels exceed 6.5 mmol/l, emergency lowering of potassium levels is mandated. Several agents are used to lower K levels. Choice depends on the degree and cause of the hyperkalemia, and other aspects of the patient's condition. - Calcium supplementation (calcium gluconate 10%, preferably through a central venous catheter as the calcium may cause phlebitis) does not lower potassium but decreases myocardial excitability, protecting against life threatening arrhythmias.
- Insulin (e.g. intravenous injection of 10u of insulin {along with 50ml of 50% dextrose to prevent hypoglycemia}) will lead to a shift of potassium ions into cells, secondary to increased activity of the sodium-potassium ATPase.
- Bicarbonate therapy (e.g. 1 ampule (45mEq) infused over 5 minutes) is effective in cases of metabolic acidosis. The bicarbonate ion will stimulate an exchange of cellular H+ for Na+, thus leading to stimulation of the sodium-potassium ATPase.
- Salbutamol (albuterol, Ventolin®) is a β2-selective catacholamine that is administered by nebuliser (e.g. 10-20 mg). This drug promotes movement of K into cells, lowering the blood levels.
- Polystyrene sulfonate (Calcium Resonium, Kayexalate) is a binding resin that binds K within the intestine and removes it from the body by defecation. Calcium Resonium (15g three times a day in water) can be given by mouth. Kayexelate can be given by mouth or as an enema. In both cases, the resin absorbs K within the intestine and carries it out of the body by defecation. This medication may cause diarrhea.
- Refractory or very severe cases may need dialysis to remove the potassium from the circulation.
- Chronic management of hyperkalemia may include diuretics such as furosemide (Lasix®) or hydrochlorothiazide.
- When mineralocorticoid deficiency is contributing, high dose hydrocortisone and intravenous saline solution may be all that is necessary.
General Name, Symbol, Number calcium, Ca, 20 Chemical series alkaline earth metals Group, Period, Block 2, 4, s Appearance silvery white Atomic mass 40. ...
In medicine, a central venous catheter (CVC or central (venous) line) is a catheter placed into a large vein in the chest or groin. ...
Phlebitis is an inflammation of a vein, usually in the legs. ...
Myocardium is the muscular tissue of the heart. ...
A cardiac arrhythmia, also called cardiac dysrhythmia, is a disturbance in the regular rhythm of the heartbeat. ...
Insulin (from Latin insula, island, as it is produced in the Islets of Langerhans in the pancreas) is a polypeptide hormone that regulates carbohydrate metabolism. ...
The title given to this article is incorrect due to technical limitations. ...
In inorganic chemistry, a bicarbonate (IUPAC-recommended nomenclature: hydrogencarbonate) is an intermediate form in the deprotonation of carbonic acid. ...
The title given to this article is incorrect due to technical limitations. ...
Salbutamol (INN) or albuterol (USAN) is a short-acting β2-adrenergic receptor agonist used for the relief of bronchospasm in conditions such as asthma and COPD. Salbutamol sulfate is usually given by the inhaled route for direct effect on bronchial smooth muscle. ...
Polystyrene sulfonate Sodium polystyrene sulfonate is a type of polymer and ionomer based on polystyrene. ...
This 2qt (about 2 liters) enema bag, or fountain syringe, equipped with a rectal nozzle, is to be filled with water or a solution, then suspended near the patient using the hook. ...
In medicine, dialysis is a type of renal replacement therapy which is used to provide an artificial replacement for lost kidney function due to renal failure. ...
A diuretic is any drug that tends to increase the flow of urine from the body (diuresis). ...
Furosemide (INN) or frusemide (former BAN) is a loop diuretic used in the treatment of congestive heart failure and edema. ...
Hydrochlorothiazide (Apo-Hydro®, Aquazide H®, Microzide®, Oretic®), sometimes abbreviated HCT, HCTZ, or HZT is a popular diuretic drug that acts by inhibiting the kidneys ability to retain water. ...
Hydrocortisone is a synthetic corticosteroid drug which may be given by injection or by topical application. ...
In medicine saline is a solution of sodium chloride in sterile water, used commonly for intravenous infusion, cleaning contact lenses, and nasal irrigation or Jala Neti. ...
See also Hypokalemia is a potentially fatal condition in which the body fails to retain sufficient potassium to maintain health. ...
Renal failure is the condition in which the kidneys fail to function properly. ...
References - Kasper DL et al (Eds). Harrison's Principles of Internal Medicine, 16th ed, chapter 41, pages 258-61. ISBN 0-07-140235-7.
- Rose, B.D. and T.W. Post, Clinical Physiology of Acid-Base and Electrolyte Disorders, 5th ed. 2001, pages 888-930. ISBN 0-07-134682-1
- Schaefer TJ, Wolford RW (2005). Disorders of potassium. Emerg Med Clin North Am, 23(3), 723-47.
amino-acids Phenylketonuria - Alkaptonuria - Ochronosis - Tyrosinemia - Maple syrup urine disease - Propionic acidemia - Methylmalonic acidemia - Isovaleric acidemia - Primary carnitine deficiency - Cystinuria - Cystinosis - Hartnup disease - Homocystinuria - Citrullinemia - Hyperammonemia - Glutaric acidemia type 1 carbohydrates Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V), Fructose intolerance, Galactosemia Lipid storage disorders Sphingolipidoses: Gangliosidosis - GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Wolman disease - Cholesteryl ester storage disease List of fatty acid metabolism disorders - Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia mineral metabolism Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43- Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism fluid, electrolyte and acid-base balance Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl- Hyperchloremia/Hypochloremia porphyrin and bilirubin Acatalasia - Gilbert's syndrome - Crigler-Najjar syndrome - Dubin-Johnson syndrome - Rotor syndrome - Porphyria (Acute intermittent porphyria, Gunther's disease, Porphyria cutanea tarda, Erythropoietic protoporphyria, Hepatoerythropoietic porphyria, Hereditary coproporphyria, Variegate porphyria) Harrisons Principles of Internal Medicine is an American textbook of internal medicine. ...
A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. ...
Pathology (from Greek pathos, feeling, pain, suffering; and logos, study of; see also -ology) is the study of the processes underlying disease and other forms of illness, harmful abnormality, or dysfunction. ...
Phenylketonuria (PKU; ) is a human genetic disorder in which the body does not contain the enzyme phenylalanine hydroxylase, necessary to metabolize phenylalanine to tyrosine, and converts phenylalanine instead to phenylpyruvic acid. ...
Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism. ...
Ochronosis is a dermatological disorder that results in the adverse pigmentation of cartilage from a long term buildup of phenylalanine or tyrosine. ...
Tyrosinemia (or Tyrosinaemia) is an error of metabolism, usually inborn, in which the body can not effectively break down the amino acid tyrosine, found in most animal and plant proteins. ...
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of amino acid metabolism. ...
Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. ...
Methylmalonic acidemia (MMA) is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. ...
Isovaleric acidemia is a rare genetic disorder in which the body is unable to process certain proteins properly. ...
Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food. ...
à Cystinuria is an inherited autosomal recessive disorder and is characterized by the formation of cystine stones in the kidneys, ureter, and bladder. ...
This article needs to be wikified. ...
Hartnup disease, or Hartnups disease, or Hartnup disorder, is a genetic metabolic disorder in the absorption of the amino acid tryptophan that leads to the insufficent production of nicotinamide. ...
Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the metabolism of the amino acid methionine. ...
Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. ...
Hyperammonemia is a metabolic disturbance characterised by an excess of ammonia in the blood. ...
Glutaric acidemia type 1 (or Glutaric Aciduria, GA1, or GAT1) is an inherited disorder in which the body is unable to process the amino acid lysine, hydroxylysine and tryptophan properly. ...
Glycogen storage disease is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. ...
Glycogen storage disease type I or von Gierkes disease, is the most common of the glycogen storage diseases. ...
Glycogen storage disease type II (also called Pompe disease or infantile acid maltase deficiency) is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is needed to break down glycogen, a stored form of sugar used for energy. ...
Glycogen storage disease type III is characterized by a deficiency in glycogen debranching enzymes. ...
Glycogen storage disease type IV is a very rare hereditary metabolic disorder. ...
Glycogen storage disease type V is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase, the muscle isoform of the enzyme glycogen phosphorylase. ...
Fructose intolerance is a hereditary condition due to a deficiency of liver enzymes that metabolise fructose. ...
Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ...
Lipid storage disorders (or lipidoses) are a group of inherited metabolic disorders in which harmful amounts lipids (fats) accumulate in some of the bodyâs cells and tissues. ...
Sphingolipidoses are a class of disorders relating to Sphingolipid metabolism. ...
Ganglioside is a compound composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids (AKA n-acetylneuraminic acid) linked on the sugar chain. ...
The GM2 gangliosidoses cause the body to store excess acidic fatty materials in tissues and cells, most notably in nerve cells. ...
Sandhoff disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. ...
Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis) is a genetic disorder, fatal in its most common variant known as Infantile Tay-Sachs disease. ...
The GM1 gangliosidoses are caused by a deficiency of beta-galactosidase, with resulting abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells. ...
Mucolipidosis type IV (ML IV) is caused by harmful alterations of a protein in the cell that is believed to be involved in the movement of molecules such as calcium across cell membranes. ...
Gauchers disease (pronounced ) is the most common of the lipid storage diseases. ...
Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain. ...
Farber disease (also known as Farberâs lipogranulomatosis or ceramidase deficiency) describes a group of rare autosomal recessive disorders that cause an accumulation of fatty material in the joints, tissues and central nervous system. ...
Fabrys disease (also known as Anderson-Fabry disease, Angiokeratoma corporis diffusum, and Ceramide trihexosidosis) is a rare, X-linked inherited lysosomal storage disease. ...
Metachromatic leukodystrophy (MLD) is the most common form of a family of genetic diseases known as the leukodystrophies, diseases which affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibres throughout the central and peripherial nervous systems . ...
Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. ...
Neuronal Ceroid Lipofuscinoses (NCL, also known as Batten disease) is a broad term used to refer to a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumlation of lipopigments, such as lipofuscin, in the bodys tissues. ...
Batten disease is a rare, fatal, inherited disease of the nervous system (neurodegenerative disorder) that begins in childhood. ...
Cerebrotendineous xanthomatosis (or cerebrotendinous xanthomatosis, with one fewer e, or Van Bogaert-Scherer-Epstein syndrome, or cerebrotendinous cholesterosis) is a form of xanthomatosis associated with the CYP27A1 gene on chromosome 2. ...
Wolman disease (also known as Wolmanâs disease, Wolmanâs syndrom, and acid lipase deficiency) is a rare severe lipid storage disease that is usually fatal by age 1. ...
Cholesteryl ester storage disease is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. ...
It has been suggested that this article or section be merged with Inborn error of metabolism. ...
Hypercholesterolemia (literally: high blood cholesterol) is the presence of high levels of cholesterol in the blood. ...
Hypercholesterolemia (literally: high blood cholesterol) is the presence of high levels of cholesterol in the blood [1]. It is not a disease but a metabolic derangement that can be secondary to many diseases and can contribute to many forms of disease, most notably cardiovascular disease. ...
In medicine, familial hypercholesterolemia is a rare disease characterised by very high LDL cholesterol and early cardiovascular disease running in families. ...
A xanthoma is a deposition of cholesterol-rich material in tendons and other body parts in various disease states: Tendon xanthomas (associated with familial hypercholesterolemia, cerebrotendineous xanthomatosis and phytosterolemia) Palmar xanthomas Eruptive xanthomas See also xanthelasma Categories: Stub | Sign (medicine) ...
In medicine, combined hyperlipidemia (or -aemia) is a commonly occurring form of hypercholesterolemia (elevated cholesterol levels) characterised by increased LDL and triglyceride concentrations, often accompanied by decreased HDL. On lipoprotein electrophoresis (a test now rarely performed) is shows as a hyperlipoproteinemia type IIB. The elevated triglyceride levels (>5 mmol/l...
Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is a disorder of lipoprotein metabolism. ...
Tangier disease is a rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as good cholesterol, in the bloodstream. ...
Abetalipoproteinemia is a rare genetic disorder (autosomal recessive) that interferes with the normal absorption of fat and fat soluble vitamins from food. ...
Wilsons disease or hepatolenticular degeneration is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000 in most parts of the world and a male preponderance. ...
Menkes disease, also called the kinky hair disease or Menkes kinky hair syndrome, is a disease of abnormal copper metabolism. ...
Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ...
Acrodermatitis enteropathica is an autosomal recessive disorder characterized by periorificial (around the natural orifices) and acral (in the limbs) dermatitis, alopecia (loss of hair), and diarrhea. ...
Hypophosphatemia is an electrolyte disturbance in which there is an abnormally depleted level of phosphate in the blood. ...
Hypophosphatasia is a rare inherited metabolic disease of decreased tissue nonspecific alkaline phosphatase (TNSALP) and defective bone mineralization. ...
Hypermagnesemia is an electrolyte disturbance in which there is an abnormally elevated level of magnesium in the blood. ...
Hypomagnesemia is an electrolyte disturbance in which there is an abnormally low level of magnesium in the blood. ...
Hypercalcaemia (or Hypercalcemia) is an elevated calcium level in the blood. ...
In medicine, hypocalcaemia is the presence of low serum calcium levels in the blood, usually taken as less than 2. ...
Disorders of calcium metabolism occur when the body has too little or too much calcium. ...
Electrolyte disturbance refers to an abnormal change in the levels of electrolytes in the body. ...
Hypernatremia is an electrolyte disturbance consisting of an elevated sodium level in the blood (compare to hyponatremia, meaning a low sodium level). ...
The electrolyte disturbance hyponatremia or hyponatraemia exists in humans when the sodium level in the plasma falls below 135 mmol/l. ...
Acidosis is an increased acidity (i. ...
In medicine, metabolic acidosis is a state in which the blood pH is low (under 7. ...
Respiratory acidosis is acidosis (abnormal acidity of the blood) due to decreased ventilation of the pulmonary alveoli, leading to elevated arterial carbon dioxide concentration. ...
Lactic acidosis is a condition caused by the buildup of lactic acid in the body. ...
Alkalosis refers to a condition reducing hydrogen ion concentration of arterial blood plasma. ...
Metabolic alkalosis results from altered metabolism. ...
Alkalosis refers to a condition reducing hydrogen ion concentration of arterial blood plasma. ...
In a Mixed disorder of acid-base balance more than one of the following is occurring in the patient at the same time: acidosis metabolic acidosis respiratory acidosis alkalosis metabolic alkalosis respiratory alkalosis The patient can have an acidosis and alkosis at the same time that partially counteract each other...
Dehydration (hypohydration) is the removal of water (hydro in ancient Greek) from an object. ...
Hypervolemia (or Fluid overload) is the medical condition where there is too much fluid in the body. ...
Hypokalemia is a potentially fatal condition in which the body fails to retain sufficient potassium to maintain health. ...
Hyperchloremia is an electrolyte disturbance in which there is an abnormally elevated level of the chloride ion in the blood. ...
Hypochloremia is an electrolyte disturbance in which there is an abnormally depleted level of the chloride ion in the blood. ...
Acatalasia (or Takaharas disease) is a peroxisomal disorder caused by a catalase deficiency. ...
It has been suggested that Gilbert syndrome be merged into this article or section. ...
Crigler-Najjar syndrome is a disorder of bilirubin metabolism. ...
Dubin-Johnson syndrome is an autosomal recessive disease which presents shortly after birth with an increase of conjugated bilirubin without elevation of liver enzymes (ALT, AST). ...
Rotor syndrome is a rare, benign autosomal recessive disorder of unknown origin. ...
This article is about the disease. ...
Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by a deficiency of the enzyme, porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. ...
Gunthers disease is a form of erythropoietic porphyria. ...
The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ...
The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ...
Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in the gene which codes Uroporphyrinogen III decarboxylase (UROD). ...
The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ...
The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ...
glycosaminoglycan Mucopolysaccharidosis - Hurler syndrome - Hunter syndrome - Sanfilippo syndrome - Morquio syndrome glycoprotein I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis other Alpha 1-antitrypsin deficiency - Cystic fibrosis - Familial Mediterranean fever - Lesch-Nyhan syndrome The mucopolysaccharidoses are inborn errors of metabolism resulting from the deficiency of specific lysosomal enzymes needed in glycosaminoglycan catabolism. ...
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I) or Hurlers disease, is a genetic disorder that results in the deficiency of alpha-L iduronidase, which is an enzyme that breaks down mucopolysaccharides. ...
Hunters syndrome is a mucopolysaccharide disease caused by an enzyme deficiency of iduronate-2-sulfatase (I2S). ...
Sanfillipo syndrome is a lysosomal storage disorder resulting from a deficiency in the lysosomal enzyme heparan-N-sulfatase. ...
Morquio syndrome (referred to as mucopolysaccharidosis IV or Morquios) is a mucopolysaccharide storage disease. ...
ML II is also referred to as inclusion-cell (I-cell) disease because waste products, thought to include carbohydrates, lipids, and proteins, accumulate into masses known as inclusion bodies. ...
Symptoms of ML III are often not noticed until the child is 3-5 years of age. ...
Aspartylglucosaminuria is a glycoprotein metabolism disorder caused by a lack of aspartylglucosaminidase (AGA). ...
Fucosidosis is an autosomal recessive disease in which fucosidase is not properly used in the cells to break fucose. ...
α-mannosidosis is a genetic disorder that causes progressive mental and physical deterioration. ...
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Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. ...
Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ...
Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ...
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