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Article

Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.

American journal of medical genetics. Part A - 1 Jul 2025

Kılıç Mustafa, Sayar Esra, İcil Suzan, Doğan Sevgi, Gökçe-Altaş Gizem, Koşukcu Can, Bakır Abdüllatif, Sezer Abdullah

Abstract excerpt

Maple syrup urine disease (MSUD) is a rare inborn error of metabolism caused by impaired catabolism of branched-chain amino acids (BCAAs). The genes BCKDHA, BCKDHB, DBT, and DLD encode the subunits of the branched-chain α-ketoacid dehydrogenase (BCKDH) complex, which is essential for BCAA metabolism. Catalytic subunits are BCKDHA, BCKDHB, DBT, and DLD, whereas the regulator subunits are PPM1K and BCKDK. PPM1K...

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Share to 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Share to Amino Acids, Branched-Chain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40047138
DOI: 10.1002/ajmg.a.64037

Genes

PPM1K
BCKDHA
BCKDHB
DBT
DLD
BCKDK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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