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Article

Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β.

Journal of cellular biochemistry - 1 Oct 2012

Bashyam Murali D, Chaudhary Ajay K, Sinha Manjari, Nagarajaram H A, Devi A Radha Rama, Bashyam Leena, Reddy E Chandrakanth, Dalal Ashwin

Abstract excerpt

Maple Syrup Urine Disease is a rare metabolic disorder caused by reduced/absent activity of the branched chain α-Ketoacid dehydrogenase enzyme complex. Mutations in BCKDHA, BCKDHB, and DBT, that encode important subunits of the enzyme complex namely E1α, E1β, and E2, are the primary cause for the disease. We have performed the first molecular genetic analysis of MSUD from India on nine patients exhibiting...

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Source

Identifiers

PMID: 22593002
DOI: 10.1002/jcb.24189

Genes

BCKDHB
BCKDHA
DBT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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