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Key Features

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  • Dysmorphic features, hypotonia, hearing loss, seizures, cataracts, retinopathy, liver disease and renal disease are characteristic findings of severe peroxisomal disease.

  • Change in behavior or school failure in a young boy may suggest X-linked adrenoleukodystrophy and warrants a brain MRI with contrast.

  • Very-long-chain fatty acid analysis is a good screening test for most, but not all, peroxisomal disorders.

  • In peroxisomal biogenesis disorders, multiple enzymes are deficient

  • Except for adrenoleukodystrophy, all peroxisomal diseases are autosomal recessive and can be diagnosed in utero

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Clinical Findings

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  • Patients present as neonates or infants with

    • Seizures

    • Hypotonia

    • Characteristic facies with a large forehead and fontanel

    • Cholestatic hepatopathy

    • Retinal dystrophy

    • Hearing loss

  • At autopsy, renal cysts, brain neuronal migration abnormalities, and absent or empty peroxisomes are seen

  • Patients with milder biochemical and clinical phenotype have ataxia, developmental delay, and hearing and vision loss

  • In other peroxisomal diseases, only a single enzyme is deficient

  • Primary hyperoxaluria (alanine-glyoxylate aminotransferase deficiency) causes renal stones and nephropathy

  • Defective phytanic acid oxidation in adult Refsum disease causes ataxia, leukodystrophy, cardiomyopathy, neuropathy, and retinal dystrophy

  • Other isolated enzyme deficiencies can mimic Zellweger syndrome

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Diagnosis

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  • The best screening test for Zellweger syndrome spectrum is determination of very-long-chain fatty acids in plasma

  • Urine bile acids are abnormal in other peroxisomal disorders

  • Phytanic acid and plasmalogens can also be measured

  • Fibroblast enzyme assays and molecular analysis provide confirmation

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Treatment

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  • Bone marrow transplantation may be an effective treatment at the early stages of adrenoleukodystrophy, and close monitoring of affected males is necessary

  • Adrenal insufficiency requires hydrocortisone substitution

  • Dietary treatment is used and effective for adult Refsum disease

  • Liver transplantation protects the kidneys in severe primary hyperoxaluria

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