Details of Disease

General Information of Disease (ID: DIS848CW)

Disease Name Classic maple syrup urine disease
Synonyms
classic branched-chain ketoaciduria; classic BCKD deficiency; classic branched-chain 2-ketoacid dehydrogenase deficiency; classic branched-chain alpha-ketoacid dehydrogenase deficiency; classic maple syrup urine disease; classic MSUD
Definition
Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.
Disease Hierarchy
DIS61XRH: Maple syrup urine disease
DIS848CW: Classic maple syrup urine disease
Disease Identifiers
MONDO ID
MONDO_0017051
MESH ID
D008375
UMLS CUI
C0268568
MedGen ID
78689
Orphanet ID
268145
SNOMED CT ID
54064006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BCAT2 TTF9OQ6 Limited Biomarker [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BCKDHA OT0LHOZB Supportive Autosomal recessive [2]
BCKDHB OT8OSVYU Supportive Autosomal recessive [2]
DBT OT4KZ5R9 Supportive Autosomal recessive [2]
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References

1 ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.J Clin Invest. 2004 Feb;113(3):434-40. doi: 10.1172/JCI19574.
2 Maple Syrup Urine Disease. 2006 Jan 30 [updated 2020 Apr 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.