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Article

PPM1K defects cause mild maple syrup urine disease: The second case in the literature.

American journal of medical genetics. Part A - 1 May 2023

Ozcelik Firat, Arslan Sezai, Ozguc Caliskan Busra, Kardas Fatih, Ozkul Yusuf, Dundar Munis

Abstract excerpt

Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by the insufficient catabolism of branched-chain amino acids. BCKDHA, BCKDHB, DBT, and DLD encode the subunits of the branched-chain α-ketoacid dehydrogenase complex, which is responsible for the catabolism of these amino acids. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT are characteristic of MSUD. In addition, a patient with a...

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Share to 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
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PMID: 36706222
DOI: 10.1002/ajmg.a.63129

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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