Document Detail


Neonatal adrenoleukodystrophy: a clinical, pathologic, and biochemical study.
MedLine Citation:
PMID:  23044013     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Neonatal adrenoleukodystrophy constitutes a distinct genetic disorder of autosomal recessive inheritance, and is distinguishable from the cerebro-hepato-renal syndrome of Zellweger and X-linked juvenile adrenoleukodystrophy, although all three conditions store very long chain fatty acids. Abnormal clinical features in neonatal adrenoleukodystrophy are generally present at birth, and include muscle hypotonia, severe psychomotor retardation, and failure to thrive. These infants are generally blind and deaf, with seizures developing during their first few weeks. A retinopathic "leopard spot" is common, and should help identify this disorder. The brains of four infants who died of neonatal adrenoleukodystrophy were biochemically analyzed for complex lipids, including cholesterol, cholesterol esters, total phospholipids, total galactolipids, and gangliosides. Additional analyses included the separation and identification of very long chain fatty acids and various forms of brain plasmalogen. Analyses of brains with neonatal adrenoleukodystrophy revealed the chemical identification of at least two stored lipid products. Very long chain fatty acids are present, especially in cholesterol esters, and vinyl ether ethanolamine plasmalogens are markedly elevated. The storage of vinyl ether plasmalogen in brains of infants dying of neonatal adrenoleukodystrophy clearly distinguishes them from those with cerebro-hepato-renal syndrome of Zellweger, which fail to synthesize plasmalogens.
Authors:
Donald F Farrell
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  47     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-10-09     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  330-6     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
Affiliation:
Neurology Department at School of Medicine, University of Washington, Seattle, Washington. Electronic address: donf@u.washington.edu.
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