NALT

Preferred term

maple syrup urine disease

Topic

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.

inherited metabolic diseases

3-methyl-2-oxobutanoate dehydrogenase (lipoamide)

branched-chain ketoaciduria
classic maple syrup urine disease
intermediate maple syrup urine disease

Field 001 in MARC Authority Format

22466

Spanish

enfermedad de la orina de jarabe de arce

URI

https://lod.nal.usda.gov/nalt/47275

Download this concept

Created 1/19/06, last modified 8/23/16