Topics: Nutrition and Metabolism Disorders : Inherited
Many disorders of metabolism have a genetic component, or are presumed to do so, with research being directed at finding the factors responsible.
Amyloidosis
Amyloid (pronounced am'-i-loyd) is an abnormal protein that may be deposited in any of your body's tissues or organs.
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Aspartylglucosaminuria
Aspartylglycosaminuria is a classical lysosomal storage disorder caused by defective activity of the lysosomal hydrolase aspartylglucosaminidase.
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Congenital Chloride Diarrhea
Congenital Chloride diarrhea (CLD) is an intestinal transport defect of chloride ions. Retention of intestinal chloride causes water retention, which leads to watery diarrhea with an abnormally high chloride concentration.
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Glycogen Storage Disease Type I
GRACILE Syndrome
Gracile Syndrome is an autosomal recessive metabolic disorder presenting with fetal growth retardation, Fanconi type aminoaciduria, cholestasis, iron overload (liver hemosiderosis), profound lactic acidosis, and early death.
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Lysinuric Protein Intolerance
LPI is an autosomally recessively inherited amino acid disorder due to defective transport of cationic amino acids lysine, arginine and ornithine in the intestine and kidney tubules.
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Madelung's Disease
Madelung's Disease (also called Multiple Symmetrical Lipomatosis [MSL], Benign Symmetric Lipomatosis or Lanois-Bensaude Syndrome) is a metabolic condition characterized by the growth of fatty masses around the face, back of the head, neck, upper arms, abdomen, back and upper leg in a very specific pattern or distribution.
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Maple Syrup Urine Disease
Site about and for those dealing with Maple Syrup Urine Disease (MSUD), an inherited metabolic disorder present in about four in a million births, that, untreated, causes mental retardation, physical disabilities and death.
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Mucopolysaccharidoses
Mucopolysaccharides are long molecular chains of sugar. They are used by the body in the building of connective tissues.
Hurler Syndrome,
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Nonketotic Hyperglycinemia
Nonketotic hyperglycinemia is an inborn error of glycine degradation pathway presenting during the first days, even hours, of the newborn and causing severe brain damage and often early death.
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Porphyrias
The result of changes in the blood's nitrogen-containing substances, or porphyrins.
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Trimethylaminuria
Trimethylaminuria (TMAU), also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of the enzyme Flavin containing monooxygenase 3 (FMO3).When FMO3 is not working correctly, the body loses the ability to properly breakdown trimethylamine.
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