| Definition of 'maple syrup urine disease' |
Princeton's WordNet |
|
1. (noun) maple syrup urine disease, branched chain ketoaciduria
an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
|
| Definition of 'maple syrup urine disease' |
U.S. National Library of Medicine |
|
1. maple syrup urine disease
An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The 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. (From Adams et al., Principles of Neurology, 6th ed, p936)
|
|
|
|
|
| Alternative search options for 'maple syrup urine disease' |
|
|
|
|
|
|
|
Definitions of maple syrup urine disease 
