Document Detail


Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.
MedLine Citation:
PMID:  3944676     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The medium-chain acyl-CoA dehydrogenase (MCAD) deficiency of mitochondrial beta oxidation has been identified in two asymptomatic siblings in a family in which two previous deaths had been recorded, one attributed to sudden infant death syndrome and the other to Reye syndrome. Recognition of this disorder in one of the deceased and in the surviving siblings was accomplished by detection of a diagnostic metabolite, octanoylcarnitine, using a new mass spectrometric technique. This resulted in early treatment with L-carnitine supplement in the survivors, which should prevent metabolic deterioration. Further studies suggest that breast-feeding may be protective for infants with MCAD deficiency. Families with children who have had Reye syndrome or in which sudden infant death has occurred are at risk for MCAD deficiency. We suggest that survivors and asymptomatic siblings should be tested for this treatable disorder.
Authors:
C R Roe; D S Millington; D A Maltby; P Kinnebrew
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  108     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  1986 Jan 
Date Detail:
Created Date:  1986-02-28     Completed Date:  1986-02-28     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  13-8     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenases / deficiency*
Adult
Breast Feeding
Carnitine / analogs & derivatives,  blood,  therapeutic use,  urine
Child, Preschool
Female
Humans
Infant
Mass Spectrometry
Reye Syndrome / etiology*,  genetics,  prevention & control
Risk
Sudden Infant Death / etiology*,  prevention & control
Grant Support
ID/Acronym/Agency:
RR-30/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
3671-77-0/octanoylcarnitine; 541-15-1/Carnitine; EC 1.3.-/Acyl-CoA Dehydrogenases; EC 1.3.99.3/Acyl-CoA Dehydrogenase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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