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Alfonso Oyarzabal, Mercedes Martínez-Pardo, Begoña Merinero, Rosa Navarrete, Lourdes R Desviat, Magdalena Ugarte and Pilar Rodríguez-Pombo A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease Human Mutation 34

Article first published online: 12 DEC 2012 | DOI: 10.1002/humu.22242

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We describe the unreported involvement of the cell-survival and stress-signaling essential mitochondrial phosphatase (PP2CM), a member of the branched-chain α-ketoacid dehydrogenase (BCKDH) complex, in maple syrup urine disease (MSUD). The disease-causing mutation was identified in a patient with a mild variant phenotype. SNP array-based genotyping showed a copy-neutral homozygous pattern for chromosome 4. Mutation analysis of the candidate gene, PPM1K, revealed a homozygous c.417_418delTA change. The rescue of BCKDH activity upon transfection with wild-type PPM1K verified the variant's involvement in clinical disease.

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