Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ Key Features ++ 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 +++ Clinical Findings ++ 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 +++ Diagnosis ++ 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 +++ Treatment ++ 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 Your MyAccess profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Username? Forgot Password? Sign in via OpenAthens Sign in via Shibboleth