Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHAD)

Pyruvate Dehydrogenase E1-Alpha Deficiency, also known as pyruvate dehydrogenase deficiency, is related to pyruvate dehydrogenase e3-binding protein deficiency and multiple mitochondrial dysfunctions syndrome, and has symptoms including lethargy, seizures and nasal flaring. An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (Pyruvate Dehydrogenase E1 Subunit Alpha 1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Strawberry and Pyruvate have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex, and related phenotypes are hypotonia and abnormal facial shape