In addition to genetic tests involving PEX genes, biochemical tests have proven highly effective for the diagnosis of<unk>  and other peroxisomal disorders. Typically,<unk>  patients show elevated very long chain fatty acids in their blood plasma. Cultured primarily skin fibroblasts obtained from patients show elevated very long chain fatty acids, impaired very long chain fatty acid beta-oxidation, phytanic acid alpha-oxidation, pristanic acid alpha-oxidation, and plasmalogen biosynthesis.
Infantile Refsum disease
Chyloderma
Iododerma
Xeroderma
Scleroderma
Rhizomelic chondrodysplasia punctata
Dyskeratosis congenita
Dentinogenesis imperfecta