In addition to genetic tests involving the sequencing of 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.
Zellweger syndrome
Rett syndrome
Asperger syndrome
Zellweger spectrum disorders
Hurler–Scheie syndrome
Scheie syndrome
Axenfeld–Rieger syndrome
Foster Kennedy syndrome