ZSDs are a group of rare, autosomal, recessive, multisystemic disorders; they all have a defect in peroxisome biogenesis.
Small, membrane encolsed organelle; involved in lipid and protein storage; self-replicates; involved in the production of H2O2; inactivates toxic substances; invovled in metabolism of nitrogenous bases and carbohydrates. ZSD has a phenotypic continumm (gray-scale), that ranges from mild to severe.
Lack of robust tools to assess disease severity causing limitations in quantifiable disease burden which translates into limited observations for potential treatments.
Develop and validate a robust and quantitative severity scoring system for mild to intermediate ZSD.
Peroxisome assembly involves proteins from 16 PEX genes; defects in 14 of these PEX genes causes PBD. Peroxisomal B-oxidation is important in the metabolism of very long chain fatty acids (VLCFA) >22C