Document Detail


A case of glutaric acidemia type II (severe multiple acyl-CoA dehydrogenation disorder) with subsequent prenatal exclusion in a sibling.
MedLine Citation:
PMID:  1919819     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A case of severe multiple acyl-CoA dehydrogenation disorder is described. This is the second such case reported to have had an elevated maternal serum alpha-fetoprotein and normal amniotic alpha-fetoprotein. The child's 3-day extrauterine life was characterized by intractable acidosis, respiratory distress, and ventricular fibrillation. The characteristic biochemical, morphologic, and microscopic findings of this condition are reviewed. A subsequent pregnancy was evaluated using chorionic villus sampling and analysis of cultured trophoblasts. The trophoblasts were biochemically normal, and a normal child was subsequently delivered. Since the manifestations of this disorder developed in utero, prenatal diagnosis and therapy offer the only hope for a more prolonged survival.
Authors:
M D Medlock; W J Rhead; L Pollack; J T Meredith; G Pearl; C Reece
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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:  Journal of perinatology : official journal of the California Perinatal Association     Volume:  11     ISSN:  0743-8346     ISO Abbreviation:  J Perinatol     Publication Date:  1991 Sep 
Date Detail:
Created Date:  1991-11-21     Completed Date:  1991-11-21     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8501884     Medline TA:  J Perinatol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  227-30     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Orlando Regional Medical Center, Florida.
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MeSH Terms
Descriptor/Qualifier:
Acidosis / pathology
Cerebral Hemorrhage / pathology
Electron-Transferring Flavoproteins*
Fatty Acid Desaturases / deficiency*
Fetal Diseases / diagnosis
Glutarates / blood*
Heart Defects, Congenital / pathology
Humans
Infant, Newborn
Iron-Sulfur Proteins*
Male
Multienzyme Complexes / deficiency*
Oxidoreductases Acting on CH-NH Group Donors*
Polycystic Kidney Diseases / pathology
Prenatal Diagnosis
Grant Support
ID/Acronym/Agency:
DK33289/DK/NIDDK NIH HHS
Chemical
Reg. No./Substance:
0/Electron-Transferring Flavoproteins; 0/Glutarates; 0/Iron-Sulfur Proteins; 0/Multienzyme Complexes; 110-94-1/glutaric acid; EC 1.14.19.-/Fatty Acid Desaturases; EC 1.5.-/Oxidoreductases Acting on CH-NH Group Donors; EC 1.5.5.1/electron-transferring-flavoprotein dehydrogenase

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


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