Peroxisome Biogenesis Disorder 1a (PBD1A)

Peroxisome Biogenesis Disorder 1a, also known as cerebrohepatorenal syndrome, is related to d-bifunctional protein deficiency and peroxisome biogenesis disorder 2b, and has symptoms including seizures An important gene associated with Peroxisome Biogenesis Disorder 1a is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Metabolism of steroids. The drugs Cholic Acids and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include liver and eye, and related phenotypes are hypotonia and hearing impairment