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Metabolic Disorders |
Progeria |
Progeria narrowly refers to Hutchinson-Gilford Progeria syndrome, but the term is also used more generally to describe any of the so-called "accelerated aging diseases". The word progeria is derived from the Greek for "prematurely old". Because the "accelerated aging" diseases display different aspects of aging, but never every aspect, they are often called segmental progerias by biogerontologists. Hutchinson-Gilford Progeria syndrome is an extremely rare genetic condition which causes phy ...
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Metabolic Disorders Articles
- Alkaptonuria
... Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characterist... - Barth Syndrome Information Page
... Barth syndrome is a rare congenital metabolic and neuromuscular disorder that affects boys. It is passed from mother to son through the sex-linked, or X, chromosome. Symptoms affect multiple systems o... - Biotinidase deficiency
... Biotinidase deficiency is an inherited disorder in which the body is not able to process the vitamin biotin properly. Biotin, sometimes called vitamin H, is an important water-soluble vitamin that aid... - Familial lipoprotein lipase deficiency
... Familial lipoprotein lipase deficiency is an inherited condition involving lipid metabolism (the breakdown and use of fats within the body). The condition is characterized by inflammation of the pancr... - FDA Approves First Treatment for Genetic Metabolic Disorder Including Hurler Disorder
... The Food and Drug Administration (FDA) today approved the first treatment for patients with certain forms of a rare genetic disease called MPS I, which includes Hurler Syndrome. This disease results f... - Gaucher's Disease Information Page
... Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and, in rare cases, the... - Genes and Disease: Glucose galactose malabsorption
... Glucose Galactose Malabsorption (GGM) is a rare metabolic disorder caused by a defect in glucose and galactose transport across the intestinal lining. GGM is characterized by severe diarrhea and dehyd... - Genes and Disease: Nutritional and Metabolic Diseases
... Metabolism is the means by which the body derives energy and synthesizes the other molecules it needs from the fats, carbohydrates and proteins we eat as food, by enzymatic reactions helped by mineral... - Homocystinuria
... Homocystinuria is an inherited disorder in which the body is unable to process certain amino acids (the building blocks of proteins) properly. The most common form of the condition is caused by the la... - Hutchinson-Gilford progeria syndrome
... Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in ear... - Lesch-Nyhan Syndrome Information Page
... Lesch-Nyhan syndrome (LNS) is a rare, genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase or HPRT. It is an X-linked recessive disease, and the gene ha... - Methylmalonic acidemia
... Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and lipids (fats) properly. The condition, which usually appears in early infancy, is characteri... - Mucolipidoses Information Page
... The 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. In ML, abnormal amounts of c... - Mucopolysaccharidoses Fact Sheet
... The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes needed to break down molecules called glycosaminoglycans - long chains ... - Niemann-Pick Disease Information Page
... Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some people, the brain. The d... - Pompe Disease Information Page
... Pompe disease 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. The build-up... - Primary hyperoxaluria
... Primary hyperoxaluria is a rare condition characterized by the overproduction of a substance called oxalate (or oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium o... - Propionic acidemia
... Propionic acidemia is an inherited disorder in which the body is unable to process certain proteins and lipids (fats) properly. The condition, which usually appears in early infancy, is characterized ...
Resources
- About Barth Syndrome (Barth Syndrome Foundation)
- About Primary Hyperoxaluria (Oxalosis and Hyperoxaluria Foundation)
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