| Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes. | |
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MedLine Citation:
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PMID: 3944676 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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C R Roe; D S Millington; D A Maltby; P Kinnebrew |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: The Journal of pediatrics Volume: 108 ISSN: 0022-3476 ISO Abbreviation: J. Pediatr. Publication Date: 1986 Jan |
Date Detail:
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Created Date: 1986-02-28 Completed Date: 1986-02-28 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 0375410 Medline TA: J Pediatr Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 13-8 Citation Subset: AIM; IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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:
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RR-30/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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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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