Flow chart for the differential diagnosis of patients suffering from a peroxisome biogenesis disorder (PBD) or a peroxisomal beta-oxidation disorder (POD).
Flow chart for the differential diagnosis of rhizomelic chondrodysplasia punctata (RCDP) type 1, 2, and 3.
Mouse models of peroxisome biogenesis and peroxisome function.
|Disrupted gene||Deficient (enzyme) protein||Corresponding human disease||Biochemical phenotype||Clinical characteristics|
|Pex2||Pex2||Zellweger spectrum disorder (ZS/NALD/IRD)||↑||↑||↑||↑||↓||Intrauterine growth retardation, severe hypotonia, neonatal death, delayed neuronal migration in CNS, cerebellar abnormalities with reduced Purkinje cell development|
|Pex5||Pex5||Zellweger spectrum disorder (ZS/NALD/IRD)||↑||↑||↑||↑||↓||Low birth weight, hypotonia, poor feeding, neuronal migration defect, neonatal death|
|Pex13||Pex13||Zellweger spectrum disorder (ZS/NALD/IRD)||↑||↑||↑||↑||↓||Low birth weight, hypotonia, poor feeding, neuronal migration defect, neonatal death|
|Pex7||Pex7||RCDP type 1||N||N||↑||N||↓||Intrauterine growth retardation, severe hypotonia, delayed ossification of distal bone elements, dwarfism, delayed neuronal migration|
|Pex11α||Pex11α||—||N||N||N||N||N||No phenotypic abnormalities|
|Pex11β||Pex11β||Zellweger spectrum disorder (ZS/NALD/IRD)||N||N||N||N||N||Intrauterine growth retardation, hypotonia, developmental delay, neonatal death, impaired neuronal migration|
|Gnpat||Dhapat||RCDP type 2||N||N||N||N||↓||Intrauterine growth retardation, hypotonia, male infertility, defects in eye development, cataract, optic nerve hypoplasia, prenatal death of Dhapat (−/−) embryos|
|Acox1||Acox1||Acyl-CoA oxidase deficiency||↑||N||N||N||N||Viable, but infertile; retarded postnatal growth; microvesicular steatosis; focal cell death; inflammatory reactions; liver tumors at later age (> 15 months)|
|Hsd17B4||Dbp/Mfp2||d-Bifunctional protein deficiency||↑||↑||↑||↑||N||Normal birth weight, dramatic growth retardation, up to 30% die before postnatal day 12, male infertility, no neuronal migration defect|
|Scp2||Peroxisomal thiolase 2 (Scpx)||-||N||↑||↑||↑||N||No phenotypic abnormalities, phytol feeding induces weight loss, neurological abnormalities, and early death within three weeks of birth|
|Abcd1||Aldp||Adrenomyeloneuropathy||↑||N||N||N||N||No apparent phenotype; however, beyond age 15 months, late-onset neurological and behavioral abnormalities, axonal loss in the spinal cord, and slower nerve conduction|
|Abcd2||Aldrp||Spinocerebellar ataxia||↑||N||N||N||N||No apparent phenotype; however, beyond age 15 months, areflexia ataxia, hyperactivity, slower nerve conduction, axonal loss in the spinal cord, and Purkinje cell death|
|Ehhadh||Lbf/mfp1||-||N||N||N||N||N||No phenotypic abnormalities|
|Slc27a2||Vlcs||-||N||N||N||N||N||No phenotypic abnormalities|
|Amacr||Amacr||AMACR deficiency||N||↑||N-↑||↑||N||No phenotypic abnormalities, intolerance to phytol with liver disease and early death|
|mThb||Thiolase B||-||N||N||N||N||N||No phenotypic abnormalities|
|Cat||Catalase||Acatalasemia||N||N||N||N||N||No phenotypic abnormalities except for increased susceptibility to trauma-induced dysfunction of brain mitochondria|