Table 4a.

Differential Diagnosis of ZSD – Other Peroxisomal Disorders

GeneDisorderMOIClinical FindingsBiochemical Findings
ABCD1 XL adrenoleukodystrophy 1XLAffected males are almost always developmentally normal before initial presentation.↑ plasma VLCFA concentration in males; absence of other abnormalities of peroxisomes
ACBD5 Retinal dystrophy w/leukodystrophy (OMIM 618863) 2ARZSD-like clinical phenotype↑ plasma VLCFA concentration, mild ↓ in plasmalogens
ACOX1 Acyl-CoA oxidase deficiency (OMIM 264470) 3ARIntermediate ZSD-like clinical phenotype↑ plasma VLCFA concentration 3
DNM1L Lethal encephalopathy due to defective mitochondrial peroxisomal fission 1 4 (OMIM 614388)AD
AR		Mildly dysmorphic facial features, truncal hypotonia, absent tendon reflexes, microcephaly, optic atrophy, failure to thrive, & severe DDMildly ↑ plasma VLCFA & persistent lactic acidemia
HSD17B4 D-bifunctional enzyme deficiency (OMIM 261515) 2ARSpectrum of severity: from severe ZSD-like clinical phenotype (often presents w/severe seizures) to milder presentations w/normal biochemistry 5↑ plasma VLCFA concentration, branched chain fatty acids (pristanic & phytanic acids) & ↑ bile acid intermediates (THCA/DHCA)
SCP2 Leukoencephalopathy w/dystonia & motor neuropathy (OMIM 613724) 2ARZSD-like clinical phenotype↑ plasma VLCFA concentration

AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; DHCA = dihydroxycholestanoic acid; Mat = maternal; MOI = mode of inheritance; SNHL = sensorineural hearing loss; THCA = trihydroxycholestanoic acid; VLCFA = very-long-chain fatty acid; XL = X-linked; ZSD = Zellweger spectrum disorder

1.

See Tran et al [2014] for an example of a PEX6 defect mistaken for X-linked adrenoleukodystrophy.

2.
3.

See Watkins et al [1995] for a comparison of acyl-CoA oxidase deficiency and ZSD.

4.
5.

From: Zellweger Spectrum Disorder

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