Document Detail

Neonatal adrenoleukodystrophy. Impaired plasmalogen biosynthesis and peroxisomal beta-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblasts.
MedLine Citation:
PMID:  3819771     Owner:  NLM     Status:  MEDLINE    
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.
R J Wanders; R B Schutgens; G Schrakamp; J M Tager; H Van den Bosch; A B Moser; H W Moser
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  77     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  1987 Feb 
Date Detail:
Created Date:  1987-04-08     Completed Date:  1987-04-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  331-40     Citation Subset:  IM    
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MeSH Terms
Adrenoleukodystrophy / metabolism*
Brain Diseases / metabolism
Diffuse Cerebral Sclerosis of Schilder / metabolism*
Infant, Newborn
Kidney Diseases / metabolism
Lipid Metabolism
Liver Diseases / metabolism
Microbodies / metabolism*
Plasmalogens / biosynthesis*
Reg. No./Substance:

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