Article
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 - 1 Feb 2013
Oyarzabal Alfonso, Martínez-Pardo Mercedes, Merinero Begoña, Navarrete Rosa, Desviat Lourdes R, Ugarte Magdalena, Rodríguez-Pombo Pilar
Abstract excerpt
This article describes a hitherto unreported involvement of the phosphatase PP2Cm, a recently described member of the branched-chain α-keto acid dehydrogenase (BCKDH) complex, in maple syrup urine disease (MSUD). The disease-causing mutation was identified in a patient with a mild variant phenotype, involving a gene not previously associated with MSUD. SNP array-based genotyping showed a copy-neutral homozygous...
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