| Neonatal adrenoleukodystrophy. Impaired plasmalogen biosynthesis and peroxisomal beta-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblasts. | |
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MedLine Citation:
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PMID: 3819771 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Neonatal adrenoleukodystrophy belongs to the newly recognized group of inherited diseases, the peroxisomal disorders. Based on the reported similarities between neonatal adrenoleukodystrophy and the cerebro-hepato-renal (Zellweger) syndrome, we have studied peroxisomal functions in cultured skin fibroblasts from 5 neonatal adrenoleukodystrophy patients. The results indicate that multiple peroxisomal enzyme activities are deficient in fibroblasts from neonatal adrenoleukodystrophy patients. Digitonin titration experiments revealed that peroxisomes are strongly deficient in these fibroblasts as found earlier in fibroblasts from Zellweger patients. These findings not only explain the generalized loss of peroxisomal functions in neonatal adrenoleukodystrophy, but also provide an explanation for the observed resemblance in clinical and biochemical abnormalities between neonatal adrenoleukodystrophy and Zellweger syndrome. The implications for the pre- and postnatal detection of this disease will be discussed. |
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Authors:
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R J Wanders; R B Schutgens; G Schrakamp; J M Tager; H Van den Bosch; A B Moser; H W Moser |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of the neurological sciences Volume: 77 ISSN: 0022-510X ISO Abbreviation: J. Neurol. Sci. Publication Date: 1987 Feb |
Date Detail:
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Created Date: 1987-04-08 Completed Date: 1987-04-08 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0375403 Medline TA: J Neurol Sci Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 331-40 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adrenoleukodystrophy
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metabolism* Brain Diseases / metabolism Diffuse Cerebral Sclerosis of Schilder / metabolism* Female Humans Infant, Newborn Kidney Diseases / metabolism Lipid Metabolism Liver Diseases / metabolism Male Microbodies / metabolism* Oxidation-Reduction Plasmalogens / biosynthesis* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Plasmalogens |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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