Details of Disease

General Information of Disease (ID: DIS5SRXS)

Disease Name Intermediate maple syrup urine disease
Synonyms
intermediate maple syrup urine disease; Intermediate BCKD deficiency; Intermediate branched-chain 2-ketoacid dehydrogenase deficiency; Intermediate MSUD; Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency
Definition
Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.
Disease Hierarchy
DIS61XRH: Maple syrup urine disease
DIS5SRXS: Intermediate maple syrup urine disease
Disease Identifiers
MONDO ID
MONDO_0017052
MESH ID
D008375
UMLS CUI
C1621920
MedGen ID
301223
Orphanet ID
268162
SNOMED CT ID
405287008

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 4 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]
PPM1K OTNZ4N4E Supportive Autosomal recessive [3]
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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.
3 A novel regulatory defect in the branched-chain -keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. Hum Mutat. 2013 Feb;34(2):355-62. doi: 10.1002/humu.22242. Epub 2012 Dec 12.