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Article

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.

BMC medical genomics - 13 Mar 2025

Younes Salma, Elkahlout Razan, Kilani Houda, Okashah Sarah, Sharshani Hussain Al, Rezoug Zoulikha, Zayed Hatem, Al-Dewik Nader

Abstract excerpt

BACKGROUND: Maple syrup urine disease (MSUD) is a hereditary metabolic disorder caused by a deficiency in the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. The Middle East and North Africa, and Türkiye (MENAT) region has witnessed a significant rise in the prevalence of MSUD due to high rates of consanguinity. Despite numerous genetic association studies, the complex relationships between...

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Topics

Humans
Maple Syrup Urine Disease
Africa, Northern
Middle East
Genetic Variation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

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Identifiers

PMID: 40082840
DOI: 10.1186/s12920-025-02083-x
PMCID: PMC11905697

Genes

BCKDHA
BCKDHB
DBT
PPM1K

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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