Diagnosis


Biochemical Characteristics of Different Peroxisomal Disorders.

(Wanders & Waterham, 2006)

Flow chart for the differential diagnosis of patients suffering from a peroxisome biogenesis disorder (PBD) or a peroxisomal beta-oxidation disorder (POD).

(Wanders, 2004)

Flow chart for the differential diagnosis of rhizomelic chondrodysplasia punctata (RCDP) type 1, 2, and 3.

(Wanders, 2004)

Mouse models of peroxisome biogenesis and peroxisome function.

Disrupted geneDeficient (enzyme) proteinCorresponding human diseaseBiochemical phenotypeClinical characteristics
VLCFAPRISPHYTD/THCAPL
Pex2Pex2Zellweger spectrum disorder (ZS/NALD/IRD)↑↑↑↑↓Intrauterine growth retardation, severe hypotonia, neonatal death, delayed neuronal migration in CNS, cerebellar abnormalities with reduced Purkinje cell development
Pex5Pex5Zellweger spectrum disorder (ZS/NALD/IRD)↑↑↑↑↓Low birth weight, hypotonia, poor feeding, neuronal migration defect, neonatal death
Pex13Pex13Zellweger spectrum disorder (ZS/NALD/IRD)↑↑↑↑↓Low birth weight, hypotonia, poor feeding, neuronal migration defect, neonatal death
Pex7Pex7RCDP type 1NN↑N↓Intrauterine growth retardation, severe hypotonia, delayed ossification of distal bone elements, dwarfism, delayed neuronal migration
Pex11αPex11α—NNNNNNo phenotypic abnormalities
Pex11βPex11βZellweger spectrum disorder (ZS/NALD/IRD)NNNNNIntrauterine growth retardation, hypotonia, developmental delay, neonatal death, impaired neuronal migration
GnpatDhapatRCDP type 2NNNN↓Intrauterine growth retardation, hypotonia, male infertility, defects in eye development, cataract, optic nerve hypoplasia, prenatal death of Dhapat (−/−) embryos
Acox1Acox1Acyl-CoA oxidase deficiency↑NNNNViable, but infertile; retarded postnatal growth; microvesicular steatosis; focal cell death; inflammatory reactions; liver tumors at later age (> 15 months)
Hsd17B4Dbp/Mfp2d-Bifunctional protein deficiency↑↑↑↑NNormal birth weight, dramatic growth retardation, up to 30% die before postnatal day 12, male infertility, no neuronal migration defect
Scp2Peroxisomal thiolase 2 (Scpx)-N↑↑↑NNo phenotypic abnormalities, phytol feeding induces weight loss, neurological abnormalities, and early death within three weeks of birth
Abcd1AldpAdrenomyeloneuropathy↑NNNNNo apparent phenotype; however, beyond age 15 months, late-onset neurological and behavioral abnormalities, axonal loss in the spinal cord, and slower nerve conduction
Abcd2AldrpSpinocerebellar ataxia↑NNNNNo apparent phenotype; however, beyond age 15 months, areflexia ataxia, hyperactivity, slower nerve conduction, axonal loss in the spinal cord, and Purkinje cell death
EhhadhLbf/mfp1-NNNNNNo phenotypic abnormalities
Slc27a2Vlcs-NNNNNNo phenotypic abnormalities
AmacrAmacrAMACR deficiencyN↑N-↑↑NNo phenotypic abnormalities, intolerance to phytol with liver disease and early death
mThbThiolase B-NNNNNNo phenotypic abnormalities
CatCatalaseAcatalasemiaNNNNNNo phenotypic abnormalities except for increased susceptibility to trauma-induced dysfunction of brain mitochondria
(Adapted from Wanders & Waterham, 2006)