Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Brief Summary: The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this population clinically, biochemically and genetically. The investigators will prospectively follow patients from Canada, the US and internationally, and collect data from medical evaluations, blood, urine and imaging studies that would be performed on a clinical care basis. Patients unable to attend clinics can participate in this study by mailing in their medical information. The investigators will use this information to identify standards of care and improve management.