Ontology highlight
ABSTRACT:
SUBMITTER: S Sonnet D
PROVIDER: S-EPMC4931503 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
S Sonnet Davis D N O'Leary Monique M A Gutierrez Mark M M Nguyen Steven S Mateen Samiha S Hsu Yuehmei Y P Mitchell Kylie K J Lopez Antonio A Vockley Jerry J K Kennedy Brian B Ramanathan Arvind A
Scientific reports 20160704
Maple Syrup Urine Disease (MSUD) is an inherited disorder caused by the dysfunction in the branched chain keto-acid dehydrogenase (BCKDH) enzyme. This leads to buildup of branched-chain keto-acids (BCKA) and branched-chain amino acids (BCAA) in body fluids (e.g. keto-isocaproic acid from the BCAA leucine), leading to numerous clinical features including a less understood skeletal muscle dysfunction in patients. KIC is an inhibitor of mitochondrial function at disease relevant concentrations. A m ...[more]