Maple syrup urine disease
From Health Encyclopedia
Contents |
Used for
branched chain ketoaciduria, inborn branched chain aminoaciduria
Broader Terms
inborn aminoacid metabolism disorder, mental retardation
Related Terms
Scope Note
autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids; metabolites accumulate in body fluids and render a "maple syrup" odor; divided into classic, intermediate, intermittent, and thiamine responsive subtypes; classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia; the intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting.
Facts (generated by robot; please edit if you find it inaccurate)
- Washington State West Virginia Wisconsin Wyoming Public Health News Maple Syrup Urine Disease Condition: Maple Syrup Urine Disease "Maple Syrup Urine Disease is caused by a baby's inability to use several aminio acids.
- Maple syrup urine disease is treated with a special diet that is low in branched-chain amino acids.
- What is the incidence of MSUD? Maple Syrup Urine Disease is a rare disease that affects about 1 out of every 200,000 babies born in Ontario.
- Maple Syrup Urine Disease What is maple syrup urine disease? Maple syrup urine disease is a metabolic disease.
- Maple syrup urine disease is due to mutations in the three different gene loci encoding the E1, E1 and E2 subunits of the mitochondrial branched-chain 2-keto acid dehydrogenase (BCKDH) complex.
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