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In silico analysis of novel mutations in maple syrup urine disease patients from Iran.

Metabolic brain disease - 1 Feb 2017

Abiri Maryam, Karamzadeh Razieh, Mojbafan Marziyeh, Alaei Mohammad Reza, Jodaki Atefeh, Safi Masomeh, Kianfar Soodeh, Bandehi Sarhaddi Ameneh, Noori-Daloii Mohammad Reza, Karimipoor Morteza, Zeinali Sirous

Abstract excerpt

Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive disorder of branched-chain amino acid (BCAA) metabolism. The disease is mainly caused by mutations either in the BCKDHA, BCKDHB, DBT or DLD genes encoding components of the E1α, E1β, E2 and E3 subunits of branched-chain α-keto acid dehydrogenase complex (BCKDC), respectively. BCKDC is a mitochondrial enzyme which is responsible for the normal...

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Source

Identifiers

PMID: 27507644
DOI: 10.1007/s11011-016-9867-1

Genes

BCKDHB
BCKDHA
DBT
DLD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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