Propionic Acidemia (PA-1)

Propionic Acidemia, also known as propionyl-coa carboxylase deficiency, is related to metabolic acidosis and isolated methylmalonic acidemia, and has symptoms including apnea, lethargy and seizures. An important gene associated with Propionic Acidemia is PCCA (Propionyl-CoA Carboxylase Subunit Alpha), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Hydroxocobalamin and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include heart and bone marrow, and related phenotypes are constipation and hypoglycemia