Intermediate Maple Syrup Urine Disease

Intermediate Maple Syrup Urine Disease, also known as intermediate branched-chain alpha-ketoacid dehydrogenase deficiency, is related to maple syrup urine disease and autism. An important gene associated with Intermediate Maple Syrup Urine Disease is BCKDHA (Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include brain.