Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)

Conditions

• Peroxisome Biogenesis Disorder
• Zellweger Spectrum Disorder
• RCDP - Rhizomelic Chondrodysplasia Punctata
• D-Bifunctional Protein Deficiency
• Alpha-Methylacyl-CoA Racemase Deficiency
• Peroxisomal Acyl-CoA Oxidase Deficiency
• Peroxisomal Acyl-CoA Oxidase 2 Deficiency
• ATP Binding Cassette Subfamily D Member 3 Gene Mutation
• ACBD5 (AcylCoA Binding Domain 5) Deficiency
• Adult Refsum Disease
• Sterol Carrier Protein 2 Deficiency

Sponsor

McGill University Health Centre/Research Institute of the McGill University Health Centre