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Metabolic Disorders |
Progeria |
Progeria is an extremely rare genetic condition which causes physical changes that resemble greatly accelerated aging in sufferers. It is an autosomal recessive condition that affects around 1 in 4-8 million newborns. Currently, there are approximately 35 known cases in the world with no known cure. Most children with the disease die around 13 years of age.
GoldBamboo
Progeria narrowly refers to Hutchinson-Gilford Progeria syndrome, but the t ...
Wikipedia - [full article]
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Metabolic Disorders Other1-2 of 18 more...
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...
Source: National Institute of Neurological Disorders and Stroke
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...
Source: National Institute of Neurological Disorders and Stroke
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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...
Resources
- About Barth Syndrome (Barth Syndrome Foundation)
- About Primary Hyperoxaluria (Oxalosis and Hyperoxaluria Foundation)
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