Oyarzabal, A et al. (Hum. Mutat. 34: 355-362, 2013) recently described a new gene associated with a variant form of Maple Syrup Urine Disease (MSUD). This gene, PPM1K, encodes for phosphatase PP2Cm, a newly discovered member of the branched-chain ?-keto acid dehydrogenase (BCKDH) complex. This gene was disovered in an individual affected with a mild variant form of MSUD via analysis of a region of homozygosity/uniparental disomy.
This discovery adds a fourth gene to the panel of potential gene mutations underlying MSUD, which previously included E1 alpha, E1 beta and E2.
Hilary Vernon MD PhD read more