Endocrine diseases: thyroid Hypothyroidism (Iodine deficiency, Cretinism, Congenital hypothyroidism, Goitre) - Hyperthyroidism (Graves-Basedow disease, Toxic multinodular goitre) - Thyroiditis (De Quervain's thyroiditis, Hashimoto's thyroiditis)
pancreas Diabetes mellitus (type 1, type 2, coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy) - Zollinger-Ellison syndrome
parathyroid Hyperparathyroidism (Primary hyperparathyroidism - Secondary hyperparathyroidism - Tertiary hyperparathyroidism)
pituitary Acromegaly - Hyperprolactinaemia - Syndrome of inappropriate antidiuretic hormone - Hypopituitarism (Sheehan's syndrome, Kallmann syndrome) - Diabetes insipidus - Hypothalamic-pituitary dysfunction
adrenal Addison's disease - Adrenal insufficiency - Bartter syndrome - Congenital adrenal hyperplasia - Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - Conn's syndrome - Cushing's syndrome - Hyperaldosteronism
gonads 5-alpha-reductase deficiency - Delayed puberty - Hypogonadism - Polycystic ovary syndrome - Precocious puberty
other Androgen insensitivity syndrome - Autoimmune polyendocrine syndrome - Carcinoid syndrome - Laron syndrome - Psychogenic dwarfism The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... This article or section does not cite its references or sources. ... The updated USDA food pyramid, published in 2005, is a general nutrition guide for recommended food consumption. ... Overview of the citric acid cycle The citric acid cycle, one of the central metabolic pathways in aerobic organisms. ... 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. ... Among the hundreds of endocrine diseases (or endocrinological diseases) are: Adrenal disorders: Adrenal insufficiency Addisons disease Congenital adrenal hyperplasia (adrenogenital syndrome) Mineralocorticoid deficiency Conns syndrome Cushings syndrome Pheochromocytoma Adrenocortical carcinoma Glucose homeostasis disorders: Diabetes mellitus Hypoglycemia Idiopathic hypoglycemia Insulinoma Metabolic bone disease: Osteoporosis Osteitis deformans (Pagets... This article or section does not cite its references or sources. ... Iodine is an essential trace element; the thyroid hormones thyroxine and triiodotyronine contain iodine. ... Cretinism (most likely from the Latin Christiānum, Christian) is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones (hypothyroidism). ... Congenital hypothyroidism (CHT) is a condition of thyroid hormone deficiency present at birth. ... A goitre (or goiter) (Latin struma), also called a bronchocele, is a swelling in the neck (just below adams apple or larynx) due to an enlarged thyroid gland. ... Hyperthyroidism (or overactive thyroid gland) is the clinical syndrome caused by an excess of circulating free thyroxine (T4) or free triiodothyronine (T3), or both. ... Graves-Basedow disease or known simply as Graves disease is a medical disorder that may manifest several different conditions including goitre and hyperthyroidism (over-activity of thyroid hormone production), infiltrative exophthalmos (protruberance of one or both eyes and associated problems) and infiltrative dermopathy (a skin condition usually of the lower... Toxic multinodular goitre (or Toxic nodular goitre, or Toxic nodular struma, or Plummers disease) is a form of goitre that after Graves disease is the next most common cause of hyperthyroidism. ... de Quervains thyroiditis, also known as subacute granulomatous thyroiditis or subacute thyroiditis, usually occurs in females between 30 and 50 years of age. ... Hashimotos thyroiditis, the most common form of thyroiditis, is an autoimmune disease where the bodys own antibodies fight the cells of the thyroid. ... For the disease characterized by excretion of large amounts of severely diluted urine, see diabetes insipidus. ... Diabetes mellitus type 1 is a form of diabetes mellitus. ... See diabetes mellitus for further general information on diabetes. ... Diabetic coma is a medical emergency in which a person with diabetes mellitus is comatose (unconscious) because of one of three acute complications of diabetes: Severe diabetic hypoglycemia Advanced diabetic ketoacidosis advanced enough to result in unconsciousness from a combination of severe hyperglycemia, dehydration and shock, and exhaustion Hyperosmolar nonketotic... Angiopathy is a disease of the blood vessels (arteries, veins, and capillaries) that occurs when someone has diabetes for a long time. ... Diabetic ketoacidosis (DKA) is one consequence of untreated diabetes mellitus (chronic high blood sugar, or hyperglycemia), and is linked to an impaired glucose cycle. ... Photomicrography of nodular glomerulosclerosis in Kimmelstein-Wilson syndrome. ... Diabetic neuropathies are neuropathic disorders that are associated with diabetes mellitus. ... Diabetic retinopathy is retinopathy (damage to the retina) caused by complications of diabetes mellitus, which could eventually lead to blindness. ... Zollinger-Ellison syndrome is a disorder where increased levels of the hormone gastrin are produced, causing the stomach to produce excess hydrochloric acid. ... Hyperparathyroidism is overactivity of the parathyroid glands resulting in excess production of parathyroid hormone (PTH). ... Primary hyperparathyroidism causes hypercalcemia (elevated blood calcium levels) through the excessive secretion of parathyroid hormone (PTH), usually by an adenoma (benign tumors) of the parathyroid glands. ... Secondary hyperparathyroidism refers to the excessive secretion of parathyroid hormone (PTH) by the parathyroid glands in response to hypocalcemia (low blood calcium levels). ... Tertiary hyperparathyroidism is a state of excessive secretion of parathyroid hormone (PTH) after a long period of secondary hyperparathyroidism and resulting in hypercalcemia. ... Acromegaly (from Greek akros high and megas large - extremities enlargement) is a hormonal disorder that results when the pituitary gland produces excess growth hormone (hGH). ... Prolactin is a hormone secreted by lactotropes in the adenohypophysis (anterior pituitary gland) which is made up of 199 amino acids with a molecular weight of about 23,000 daltons. ... The syndrome of inappropriate antidiuretic hormone (SIADH) is a condition commonly found in the hospital population, especially in patients being hospitalized for central nervous system (CNS) injury. ... Hypopituitarism is a medical term describing deficiency (hypo) of one or more hormones of the pituitary gland. ... Sheehan syndrome, also known as postpartum hypopituitarism or postpartum pituitary necrosis, is hypopituitarism (decreased functioning of the pituitary gland), caused by necrosis due to blood loss and hypovolemic shock during and after childbirth. ... Kallmann syndrome is an example of hypogonadism (decreased functioning of the sex hormone-producing glands) caused by a deficiency of gonadotropin-releasing hormone (GnRH), which is created by the hypothalamus. ... Diabetes insipidus (DI) is a disease characterized by excretion of large amounts of severely diluted urine, which cannot be reduced when fluid intake is reduced. ... Hypothalamic-pituitary dysfunction is a term to describe a nonorganic relative inactivity of the gonadotropin-releasing hormone (GnRH) system of the hypothalamus and its dependent pituitary gonadotrophs that normally produce follicle stimulating hormone, FSH, and luteinizing hormone, LH. The condition occurs during the reproductive years and leads to hypogonadotropic hypogonadism. ... 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. ... In medicine, adrenal insufficiency (or hypocortisolism) is the inability of the adrenal gland to produce adequate amounts of cortisol in response to stress. ... Bartter syndrome is a rare genetic disease characterized by low potassium levels (hypokalemia), decreased acidity of blood (alkalosis), and normal to low blood pressure. ... 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. ... Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency. ... Conns syndrome is overproduction of the mineralocorticoid hormone aldosterone by the adrenal glands. ... 5-alpha-reductase deficiency (5-ARD) is a condition caused by a mutation of the 5-alpha reductase type 2 gene. ... Puberty is described as delayed when a boy or girl has passed the usual age of onset of puberty with no physical or hormonal signs that it is beginning. ... Hypogonadism is a medical term for a defect of the reproductive system which results in lack of function of the gonads (ovaries or testes). ... Polycystic ovary syndrome (PCOS, also known clinically as Stein-Leventhal syndrome), is an endocrine disorder that affects 5–10% of women. ... Precocious puberty means early puberty. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... In medicine, autoimmune polyendocrine syndromes are a heterogenous group of rare diseases characterised by autoimmune activity against more than one endocrine organs, although non-endocrine organs can be affected. ... Carcinoid syndrome refers to the array of symptoms that occur secondary to carcinoid tumors. ... Laron syndrome is a disorder characterized by an insensitivity to growth hormone, caused by a variant of the growth hormone receptor. ... Psychogenic dwarfism is a growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation. ...

Nutritional: Malnutrition (Kwashiorkor - Marasmus)
other underconsumption (Bitot's spots, Beriberi, Wernicke's encephalopathy, Pellagra, Ariboflavinosis, Osteomalacia, Iron deficiency, Magnesium deficiency - Chromium deficiency)
hyperalimentation (Obesity, Hypervitaminosis A, Hypervitaminosis D) To meet Wikipedias quality standards, this article or section may require cleanup. ... Malnutrition is a general term for the medical condition caused by an improper or insufficient diet. ... Marasmus is a form of severe protein-energy malnutrition characterised by calorie deficiency and energy deficiency. ... Bitots spots are located superficially in the conjunctiva, which are oval, triangular or irregular in shape. ... Beriberi is a nervous system ailment caused by a deficiency of Vitamin B1 (thiamine), the symptoms of which may include weight loss, emotional disturbances, impaired sensory perception (Wernickes encephalopathy), weakness and pain in the limbs, and periods of irregular heartbeat. ... Wernickes encephalopathy is a severe irreversible syndrome characterised by loss of short-term memory. ... Pellagra is a vitamin deficiency disease caused by dietary lack of niacin (vitamin B3) and protein, especially proteins containing the essential amino acid tryptophan. ... Riboflavin deficiency is seen in association with: protein and energy malnutrition alcoholism The clinical features include: dry mucus membranes, affecting: mouth eyes genitalia normochromic, normocytic anaemia Treatment with riboflavin, 6 mg per day. ... To meet Wikipedias quality standards, this article may require cleanup. ... It has been suggested that this article or section be merged into iron deficiency anemia. ... Magnesium deficiency refers to an absolute lack of magnesium, the result of numerous conditions. ... Chromium deficiency is a disorder that results from an insufficient dietary intake of chromium. ... The effects of excessive vitamin A intake include: birth defects liver abnormalities, reduced bone mineral density that may result in osteoporosis coarse bone growths hair loss excessive skin dryness/peeling Signs of acute toxicity include nausea and vomiting, headache, dizziness, blurred vision, and loss of muscular coordination. ... In terms of the likelihood of poisoning, Vitamin D seems to be one of the least poisonous substances known. ...

Metabolic: 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
lipids Gangliosidosis - GM2 gangliosidoses (Sandhoff disease) - Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Krabbe disease - Neuronal ceroid lipofuscinosis - Batten disease - Lipid storage disorder - Cerebrotendineous xanthomatosis - Wolman disease - Combined hyperlipidemia - Familial hypercholesterolemia - List of fatty acid metabolism disorders - Hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia - Xanthoma
mineral metabolism Disorders of calcium metabolism - Hypophosphatemia - Hypophosphatasia - Wilson's disease - Menkes disease - Hypermagnesemia - Hypomagnesemia - Hypercalcaemia - Hypocalcaemia
fluid, electrolyte and acid-base balance Electrolyte disturbance - Hypernatremia - Hyponatremia - Respiratory acidosis - Metabolic acidosis - Lactic acidosis - Hypervolemia - Hypokalemia - Hyperkalemia - Mixed disorder of acid-base balance - Hyperchloremia - Hypochloremia - Dehydration
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)
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 A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. ... Phenylketonuria (PKU; ) is a human genetic disorder, in which the body contains phenylalanine hydroxylase, the enzyme necessary to metabolize phenylalanine to tyrosine, but this enzyme is inactive in affected individuals. ... 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 due to a deficiency of Branched chain α-keto acid dehydrogenase (BCKDH) that leads to elevated concentrations of leucine, isoleucine, and valine (branched amino acids) in the blood and urine. ... 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. ... Ë 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. ... 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 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. ... Fabrys disease (also known as Anderson-Fabry disease, Angiokeratoma corporis diffusum, and Ceramide trihexosidosis) is a rare, X-linked inherited lysosomal storage disease. ... 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. ... 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. ... 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 Wolman’s disease, Wolman’s syndrom, and acid lipase deficiency) is a rare severe lipid storage disease that is usually fatal by age 1. ... 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... In medicine, familial hypercholesterolemia is a rare disease characterised by very high LDL cholesterol and early cardiovascular disease running in families. ... 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. ... 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 that interferes with the normal absorption of fat and fat soluble vitamins from food. ... 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) ... Disorders of calcium metabolism occur when the body has too little or too much calcium. ... 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. ... 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. ... 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. ... 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. ... Respiratory acidosis is acidosis (abnormal acidity of the blood) due to decreased ventilation of the pulmonary alveoli, leading to elevated arterial carbon dioxide concentration. ... In medicine, metabolic acidosis is a state in which the blood pH is low (under 7. ... Lactic acidosis is a condition caused by the buildup of lactic acid in the body. ... 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 (hyper is high, kalium is the Latin name for potassium) is an elevated blood level (above 5. ... 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... 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. ... Dehydration (hypohydration) is the removal of water (hydro in ancient Greek) from an object. ... 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). ... 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. ... Categories: Possible copyright violations ... 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). ...