Infantile Refsum Disease

About the Disease
Peroxisome Biogenesis Disorder 1b, also known as peroxisome biogenesis disorder, is related to peroxisome biogenesis disorder 1a and rhizomelic chondrodysplasia punctata, type 1, and has symptoms including seizures An important gene associated with Peroxisome Biogenesis Disorder 1b is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Protein ubiquitination. The drugs Betaine and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain, and related phenotypes are failure to thrive and global developmental delay

Common Targets
PEX16

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