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NAL Agricultural Thesaurus
U.S. Department of Agriculture

Concept Breadcrumbs

Fields of Study > animal and human health > diseases and disorders (animals and humans) > noninfectious diseases > genetic disorders > inherited metabolic diseases > maple syrup urine disease
Animals, Livestock, One Health > animal and human health > diseases and disorders (animals and humans) > noninfectious diseases > genetic disorders > inherited metabolic diseases > maple syrup urine disease
Fields of Study > animal and human health > diseases and disorders (animals and humans) > noninfectious diseases > metabolic diseases > inherited metabolic diseases > maple syrup urine disease
Animals, Livestock, One Health > animal and human health > diseases and disorders (animals and humans) > noninfectious diseases > metabolic diseases > inherited metabolic diseases > maple syrup urine disease
Preferred Term:

maple syrup urine disease

Definition:
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.
Concept Schemes:
NALT Full
Broader Concept:
inherited metabolic diseases
Related Concepts:
Entry Terms:
  • classic maple syrup urine disease
  • intermediate maple syrup urine disease
  • branched-chain ketoaciduria
URI:
https://lod.nal.usda.gov/nalt/47275
Download this Concept:
RDF/XMLCreated 2006-01-19, last modified 2016-08-23