Document Detail

A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: utilization of the neonatal metabolic screen in a functional approach to sudden unexplained infant death.
MedLine Citation:
PMID:  19696588     Owner:  NLM     Status:  MEDLINE    
We report a perinatal death due to medium-chain acyl-CoA dehydrogenase deficiency, which was referred to the Coroner's Physician as sudden unexplained infant death. Detailed death investigation including the autopsy findings, and newborn biochemical and molecular studies revealed the cause and natural manner of death. This disorder affects fatty acid oxidation and results in decreased tolerance for fasting, which can be life threatening. This case illustrates the critical role of newborn screening in the investigation of perinatal death. A brief historical perspective of the origins of newborn biochemical screening is also presented.
Anthony A Manoukian; Chung-Eun Ha; Laurie H Seaver; Nadhipuram V Bhagavan
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The American journal of forensic medicine and pathology     Volume:  30     ISSN:  1533-404X     ISO Abbreviation:  Am J Forensic Med Pathol     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-08-21     Completed Date:  2009-12-22     Revised Date:  2011-02-02    
Medline Journal Info:
Nlm Unique ID:  8108948     Medline TA:  Am J Forensic Med Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  284-6     Citation Subset:  IM    
Clinical Laboratories of Hawaii, Inc, Department of Pathology, John A. Burns School of Medicine, Honolulu, Hawaii.
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MeSH Terms
Acyl-CoA Dehydrogenase / deficiency*
Carnitine / analogs & derivatives,  blood
Gene Deletion
Infant, Newborn
Lipid Metabolism, Inborn Errors / diagnosis*,  genetics
Neonatal Screening*
Point Mutation
Sudden Infant Death / etiology*
Reg. No./Substance:
0/acylcarnitine; 541-15-1/Carnitine; EC Dehydrogenase

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

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