Category: Genetic disorders A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. ... A renal cell carcinoma (chromophobe type) viewed on a hematoxylin & eosin stained slide Pathologist redirects here. ... Phenylalanine is one of the standard amino acids. ... phenylalanine tryptophan tyrosine thyroxine Aromatic amino acids are amino acids which include an aromatic ring. ... Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). ... 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. ... Albinism (from Latin albus; extended etymology), more technically hypomelanism or hypomelanosis, is a form of hypopigmentary congenital disorder, characterized by a lack of melanin pigment in the eyes, skin and hair (or more rarely the eyes alone). ... Histidinemia is a rare autosomal recessive metabolic disorder characterized by a deficiency of the enzyme histidase. ... In chemistry, an amino acid is any molecule that contains both amino and carboxylic acid functional groups. ... 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. ... 3-methylcrotonyl-CoA carboxylase deficiency is an inherited disorder in which the body is unable to process certain proteins properly. ... Ë Cystinuria is an inherited autosomal recessive disorder and is characterized by the formation of cystine stones in the kidneys, ureter, and bladder. ... Cystinosis is a hereditary disorder of the renal tubules characterized by the presence of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium ions and phosphates. ... 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. ... Fanconi syndrome (also known as Fanconis syndrome) is a disorder in which the proximal tubular function of the kidney is impaired, resulting in improper reabsorption of electrolytes and nutrients back into the bloodstream. ... Oculocerebrorenal syndrome (also called Lowe syndrome) is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets. ... Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the metabolism of the amino acid methionine. ... Cystathioninuria is the condition of an excess of cystathionine in the urine. ... What is a Urea Cycle Disorder? A urea cycle disorder is a genetic disorder caused by a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. ... N-Acetylglutamate synthase deficiency is a urea cycle disorder. ... Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood. ... Ornithine transcarbamylase deficiency (OTC), the most common of the Urea Cycle Disorders, is a rare metabolic disorder, occurring in one out of every 40000 births. ... Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. ... Argininosuccinic aciduria is an inherited disorder that causes ammonia 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. ... Sarcosinemia is characterized by an increased concentration of sarcosine in blood plasma and urine. ... Lactose is a disaccharide found in milk. ... 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. ... Glycogen storage disease type VI is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase. ... Phosphofructokinase deficiency, also known as Taruis disease[1], is a metabolic disorder with autosomal recessive inheritance, in which deficiency of the M subunit of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes to use carbohydrates (such as glucose) for energy. ... Fructose intolerance is a hereditary condition due to a deficiency of liver enzymes that metabolise fructose. ... Fructose bisphosphatase (EC 3. ... Essential fructosuria is a condition caused by a deficiency in hepatic fructokinase. ... Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ... Galactose-1-phosphate uridylyltransferase galactosemia (or type 1) is the most common type of galactosemia. ... Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate. ... Glucose-galactose malabsorption is a condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them. ... Sucrose intolerance, also called Congenital Sucrase-Isomaltase Deficiency (CSID) or Sucrase-isomaltase deficiency , is the condition in which sucrase, an enzyme needed for proper metabolization of sucrose, is not produced in the small intestine. ... Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. ... Pyruvate Dehydrogenase Deficiency (PDHA) is a human genetic disease. ... Pentosuria is a condition where xylulose (a pentose) presents in the urine in unusually high concentrations. ... Renal glycosuria, also known as renal glucosuria, is a rare condition in which the simple sugar glucose is excreted in the urine despite normal or low blood glucose levels. ... Lipid storage disorders (or lipidoses) are a group of inherited metabolic disorders in which harmful amounts lipids (fats) accumulate in some of the body’s 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, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in all forms. ... 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 Farber’s 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. ... Fabry disease (also known as Anderson-Fabry disease, Angiokeratoma corporis diffusum, Ceramide trihexosidosis, and Sweeley-Klionsky disease) is an X-linked recessive 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. ... 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. ... Wolman disease (also known as Wolman’s disease, Wolman’s syndrom, and acid lipase deficiency) is a rare severe lipid storage disease that is usually fatal by age 1. ... 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. ... Adrenoleukodystrophy (ALD) is a degenerative disorder of myelin, a complex fatty neural tissue that insulates many nerves of the central and peripheral nervous systems. ... This article or section contains information that has not been verified and thus might not be reliable. ... Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food. ... Carnitine palmitoyltransferase I deficiency is a rare condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. ... Carnitine palmitoyltransferase II deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. ... Dietary minerals are the chemical elements required by living organisms, other than the four elements carbon, hydrogen, nitrogen, and oxygen which are present in common organic molecules. ... 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 dietary iron metabolism (making it an iron overload disorder), which causes the accumulation of iron in a number of body tissues. ... 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, hypocalcemia 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. ... An electrolyte is a substance containing free ions that behaves as an electrically conductive medium. ... The text or formatting below is generated by a template which has been proposed for deletion. ... 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. ... Respiratory alkalosis results from increased alveolar respiration (hyperventilation) leading to decreased plasma carbon dioxide concentration. ... 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. ... Hyperkalemia is an elevated blood level (above 5. ... 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. ... Purine is a heterocyclic aromatic organic compound, consisting of a pyrimidine ring fused to an imidazole ring. ... Pyrimidine is a heterocyclic aromatic organic compound similar to benzene and pyridine, containing two nitrogen atoms at positions 1 and 3 of the six-member ring [1]. It is isomeric with two other forms of diazine. ... Hyperuricemia is the presence of high levels of uric acid in the blood. ... -1... Xanthines are a group of alkaloids that are commonly used for their effects as mild stimulants and as bronchodilators, notably in treating the symptoms of asthma. ... It has been suggested that Acute intermittent porphyria be merged into this article or section. ... 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). ... Bilirubin is a yellow breakdown product of normal heme catabolism. ... Gilberts syndrome (pr. ... 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. ... Chondroitin sulfate Hyaluronan Glycosaminoglycans (GAGs) or mucopolysaccharides are long unbranched polysaccharides consisting of a repeating disaccharide unit. ... 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. ... Mucopolysaccharidosis VI (or Maroteaux-Lamy disease) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB). ... Mucopolysaccharidosis Type VII or Sly syndrome (named after its discoverer William Sly in 1969) is also sometimes called MPS. The defective gene lies on chromosome 7. ... A glycoprotein is a macromolecule composed of a protein and a carbohydrate (an oligosaccharide). ... Mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. ... 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. ... Categories: Possible copyright violations ... Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by defective production of alpha 1-antitrypsin, deficient activity in the blood and lungs, and deposition of excessive amounts of abnormal A1AT protein in liver cells. ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Acatalasia (or Takaharas disease) is a peroxisomal disorder caused by a catalase deficiency. ...