Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome |
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| Authors: | J Ek B F Kase A Reith I Bj?rkhem J I Pedersen |
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| Institution: | 1. Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Japan;2. Department of Neurology, National Hospital Organization Iou National Hospital, Japan;3. Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan;1. College of Life Science, Henan Normal University, No. 46 construction road, 453007 Xinxiang, Henan Province, China;2. College of Life Science, Northeast Agricultural University, No. 59 Mucai Street, 150030 Harbin, Heilongjiang Province, China;3. Biopharmacuetical Division, Tasly Modern traditional Chinese Medicine City, PuJi River East Str 2, 300410 Tianjin, China. |
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| 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. |
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