title: Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome.
abstract: A boy with psychomotor retardation and Leber congenital amaurosis, sensory hearing loss, and hepatomegaly is reported. Accumulation of bile acid precursors and very long chain fatty acids together with impaired biosynthesis of plasmalogens in cultured fibroblasts (similar to those in the cerebrohepatorenal syndrome of Zellweger) were detected, but the clinical picture was distinctly different. Defective oxidation of phytanic acid was measured in fibroblasts. The virtual lack of peroxisomes in a liver biopsy specimen lends further support to the contention that at least some patients with Leber congenital amaurosis may have one of the recently defined "peroxisomal disorders." The biochemical findings indicate the possibility of prenatal diagnosis.
mesh_terms: D000326:Adrenoleukodystrophy / Q000175:diagnosis; D001706:Biopsy; D001766:Blindness / Q000151:congenital* / Q000175:diagnosis / Q000378:metabolism; D001927:Brain Diseases / Q000175:diagnosis; D002478:Cells, Cultured; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000378:metabolism*; D006529:Hepatomegaly / Q000175:diagnosis / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000378:metabolism*; D007674:Kidney Diseases / Q000175:diagnosis; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008107:Liver Diseases / Q000175:diagnosis; D008297:Male; D008830:Microbodies / Q000502:physiology*; D010084:Oxidation-Reduction; D010831:Phytanic Acid / Q000378:metabolism; D010955:Plasmalogens / Q000096:biosynthesis; D013577:Syndrome
chemical_list: D010955:Plasmalogens; D010831:Phytanic Acid