| 1 | MSUDMV, PPM1K |
| 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. | |
| Oyarzabal A, Martínez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M, Rodríguez-Pombo P. | |
| Hum Mutat 34(2):355-62. doi: 10.1002/humu.22242. Epub 2012 Dec 12. 2013 | |