Details of Disease

General Information of Disease (ID: DISJEHB2)

Disease Name Intermittent maple syrup urine disease
Synonyms
intermittent branched-chain 2-ketoacid dehydrogenase deficiency; intermittent BCKD deficiency; intermittent branched-chain alpha-ketoacid dehydrogenase deficiency; intermittent MSUD; intermittent maple syrup urine disease
Definition
Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.
Disease Hierarchy
DIS61XRH: Maple syrup urine disease
DISJEHB2: Intermittent maple syrup urine disease
Disease Identifiers
MONDO ID
MONDO_0017053
MESH ID
D008375
UMLS CUI
C0268569
MedGen ID
78690
Orphanet ID
268173
SNOMED CT ID
405288003

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]
------------------------------------------------------------------------------------
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]
------------------------------------------------------------------------------------

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.