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Article

Molecular characterization of maple syrup urine disease patients from Tunisia.

Gene - 15 Mar 2013

Jaafar N, Moleirinho A, Kerkeni E, Monastiri K, Seboui H, Amorim A, Prata M J, Quental S

Abstract excerpt

Maple syrup urine disease (MSUD) is a rare disorder of branched-chain amino acids (BCAA) metabolism caused by the defective function of branched-chain α-ketoacid dehydrogenase complex (BCKD). The disease causal mutations can occur either in BCKDHA, BCKDHB or DBT genes encoding respectively the E1α, E1β and E2 subunits of the complex. In this study we report the molecular characterization of 3 Tunisian patients...

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Source

Identifiers

PMID: 23313820
DOI: 10.1016/j.gene.2012.12.097

Genes

BCKDHB
DBT
BCKDHA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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