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Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities

S Goldfischer, J Collins, I Rapin

    The Journal of Pediatrics
    |January 1, 1986
    PubMed

    Insights

    This study details a pseudo-Zellweger syndrome case with normal peroxisome numbers but deficient enzyme activity. The findings suggest a cofactor utilization defect rather than a peroxisome biogenesis issue.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Zellweger cerebrohepatorenal syndrome is a severe peroxisome biogenesis disorder.
    • Peroxisomes are crucial for various metabolic processes, including fatty acid metabolism and bile acid synthesis.

    Observation:

    • An infant presented with symptoms mimicking Zellweger syndrome but with abundant peroxisomes in liver cells.
    • Key peroxisomal enzymes like fatty acyl-CoA oxidase and D-amino acid oxidase showed significant reduction (80-85%).
    • Deficiencies in bile acid and pipecolic acid oxidation were noted.

    Findings:

    • The case, termed "pseudo-Zellweger syndrome," exhibits multiple peroxisomal enzyme deficiencies, not a biogenesis defect.
    • Specific enzymatic deficits impact fatty acid metabolism and bile acid oxidation.
    • Accumulation of very long chain fatty acids was observed, alongside neuronal heterotopia, renal cysts, and adrenal atrophy.

    Implications:

    • This case highlights a distinct mechanism of peroxisomal dysfunction, separate from peroxisome biogenesis defects.
    • The findings suggest a potential defect in flavin adenine dinucleotide (FAD) cofactor utilization.
    • Understanding this specific enzymatic deficiency is crucial for diagnosing and potentially treating related metabolic disorders.

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