Pyruvate Dehydrogenase E3-Binding Protein Deficiency (PDHXD)

Pyruvate Dehydrogenase E3-Binding Protein Deficiency, also known as lacticacidemia due to pdx1 deficiency, is related to pyruvate dehydrogenase e1-alpha deficiency and lactic acidosis, and has symptoms including ataxia, cyanosis and headache. An important gene associated with Pyruvate Dehydrogenase E3-Binding Protein Deficiency is PDHX (Pyruvate Dehydrogenase Complex Component X), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and ESR-mediated signaling. Affiliated tissues include cerebellum and eye, and related phenotypes are increased serum lactate and increased csf lactate