RT Book, Section A1 Hay, Jr, William W. A1 Levin, Myron J. A1 Deterding, Robin R. A1 Abzug, Mark J. SR Print(0) ID 1145457768 T1 Peroxisomal Diseases T2 Quick Medical Diagnosis & Treatment Pediatrics YR 2017 FD 2017 PB McGraw-Hill Education PP New York, NY SN 9781264257614 LK accesspediatrics.mhmedical.com/content.aspx?aid=1145457768 RD 2024/03/29 AB 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 deficientExcept for adrenoleukodystrophy, all peroxisomal diseases are autosomal recessive and can be diagnosed in utero