NLM Logo

Maple Syrup Urine Disease MeSH Descriptor Data 2023


MeSH Heading
Maple Syrup Urine Disease
Tree Number(s)
C10.228.140.163.100.520
C16.320.565.100.608
C16.320.565.189.520
C18.452.132.100.520
C18.452.648.100.608
C18.452.648.189.520
Unique ID
D008375
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D008375
Scope Note
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)
Entry Version
MAPLE SYRUP URINE DIS
Entry Term(s)
BCKD Deficiency
Branched-Chain Ketoaciduria
Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency
Classic Maple Syrup Urine Disease
Classical Maple Syrup Urine Disease
Intermediate Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease
Keto Acid Decarboxylase Deficiency
MSUD (Maple Syrup Urine Disease)
Maple Syrup Urine Disease, Classic
Maple Syrup Urine Disease, Classical
Maple Syrup Urine Disease, Intermediate
Maple Syrup Urine Disease, Intermittent
Maple Syrup Urine Disease, Thiamine Responsive
Maple Syrup Urine Disease, Thiamine-Responsive
Thiamine Responsive Maple Syrup Urine Disease
NLM Classification #
QU 265.5.A5
Date Established
1966/01/01
Date of Entry
1999/01/01
Revision Date
2013/07/08
Maple Syrup Urine Disease Preferred
Intermediate Maple Syrup Urine Disease Narrower
Maple Syrup Urine Disease, Thiamine Responsive Narrower
Classic Maple Syrup Urine Disease Narrower
Intermittent Maple Syrup Urine Disease Narrower
page delivered in 0.166s