Details of Disease

General Information of Disease (ID: DISEL4MR)

Disease Name Thiamine-responsive maple syrup urine disease
Synonyms
thiamine-responsive BCKD deficiency; thiamine-responsive maple syrup urine disease; thiamine-responsive MSUD; thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency; thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency
Definition
Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.
Disease Hierarchy
DIS61XRH: Maple syrup urine disease
DISEL4MR: Thiamine-responsive maple syrup urine disease
Disease Identifiers
MONDO ID
MONDO_0017054
MESH ID
D008375
UMLS CUI
C0751285
MedGen ID
199627
Orphanet ID
268184
SNOMED CT ID
31368008

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.