Diseases

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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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)

MeSH Record

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See Also

MeSH Record

Synonyms

21 entry terms
  • BCKD Deficiency
  • Branched-Chain Ketoaciduria
  • Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency
  • Keto Acid Decarboxylase Deficiency
  • MSUD (Maple Syrup Urine Disease)
  • Branched Chain Ketoaciduria
  • Branched Chain alpha Keto Acid Dehydrogenase Deficiency
  • Branched-Chain Ketoacidurias
  • Ketoaciduria, Branched-Chain
  • Ketoacidurias, Branched-Chain
  • Classic Maple Syrup Urine Disease
  • Classical Maple Syrup Urine Disease
  • Intermediate Maple Syrup Urine Disease
  • Intermittent 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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.520w
  2. C16w.320w.565w.100.608w
  3. C16w.320w.565w.189.520w
  4. C18.452w.132.100.520w
  5. C18.452w.648w.100.608w
  6. C18.452w.648w.189.520w

MeSH Record

NLM Classification

QU 265.5.A5

AMA Style

References

  1. National Library of Medicine. Maple Syrup Urine Disease. Medical Subject Headings (MeSH). 2026. Unique ID D008375. http://id.nlm.nih.gov/mesh/2026/D008375
  2. Maple Syrup Urine Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Maple_syrup_urine_disease
  3. Maple Syrup Urine Disease. In: Wikidata. https://www.wikidata.org/wiki/Q402575