Abstract
Zellweger's cerebro-hepato-renal syndrome (CHRS) is an autosomal recessive disorder of peroxisomal biogenesis with profound hypotonia and seizures from birth, fatal in the first year of life. Peroxisomes are undetectable in hepatocytes. Biochemical abnormalities secondary to the peroxisomal defect include abnormal C26:C22 fatty acid ratio, accumulation of bile acid intermediates, hyperpipecolatemia and reduced tissue plasmalogen content. Many of these abnormalities are also present in neonatal adrenoleukodystrophy (NALD) and infantile Refsum's disease, disorders with deficient or absent hepatic peroxisomes.
A female infant with clinical, chemical and pathological syndrome identical to CHRS survived to age 11 months. Her liver contained abundant peroxisomes, however Dαfamino acid oxidase activity and oxidase activity toward palmitoyl-CoA and decanyl-CoA were reduced by 80-85% while Lαhydroxy acid oxidase was normal. The plasmalogen pathway enzyme dihydroxyacetone phosphate acyl transferase (DHAPAT) was present in normal amounts in fibroblasts and liver while it was virtually undetectible in CHRS fibroblasts.
This case of pseudo-Zellweger CHRS is a disease in which multiple peroxisomal oxidative activities are deficient rather than a disorder of peroxisomal biogenesis like CHRS, NALD and infantile Refsum's disease.
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Collins, J., Rapin, I., Hoof, F. et al. 811 PSEUDO-ZELLWEGER'S - MULTIPLE PEROXISOMAL OXIDATIVE ENZYME DEFICIENCIES. Pediatr Res 19, 246 (1985). https://doi.org/10.1203/00006450-198504000-00841
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DOI: https://doi.org/10.1203/00006450-198504000-00841