Maple Syrup Urine Disease

About the Disease
Maple Syrup Urine Disease, also known as bckd deficiency, is related to dihydrolipoamide dehydrogenase deficiency and intermediate maple syrup urine disease, and has symptoms including ataxia, lethargy and seizures. An important gene associated with 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. The drugs Dapagliflozin and Insulin have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and liver, and related phenotypes are intellectual disability and respiratory insufficiency

Common Targets
OXCT1 | HTR1A | DLD | PPM1K | PANK3 | Chaperone (nonspecified subtype) | BCKDHA | BCKDHB | Pyruvate dehydrogenase kinase (nonspecified subtype) | Histone deacetylase (nonspecified subtype) | BCKDK | DBT

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