Document Detail

Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.
MedLine Citation:
PMID:  8215568     Owner:  NLM     Status:  MEDLINE    
Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency has not been thought to be associated with significant neonatal symptoms. To determine the validity of this, all known MCAD cases from New South Wales were reassessed. A total of 16 confirmed and three presumed cases has been identified in New South Wales, from 15 families. The casenotes of patients were reviewed, and where possible the mothers interviewed, either directly or by telephone, to obtain information about neonatal events. Six of the 16 confirmed cases had significant neonatal symptoms, with onset from 17 hours to 3 days of age. All required intravenous dextrose and four of the six needed other interventions, including hospital transfer. One baby died. All six were breast fed, but so were five of the eight asymptomatic neonates for whom information was available. Four of the six symptomatic neonates were homozygous for the common MCAD mutation, an A to G transition at position 985, and one was heterozygous. It is concluded that serious neonatal symptoms are common in MCAD. Newborn siblings of MCAD cases must have careful monitoring and support during the first few days of life.
B Wilcken; K H Carpenter; J Hammond
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Archives of disease in childhood     Volume:  69     ISSN:  1468-2044     ISO Abbreviation:  Arch. Dis. Child.     Publication Date:  1993 Sep 
Date Detail:
Created Date:  1993-11-03     Completed Date:  1993-11-03     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0372434     Medline TA:  Arch Dis Child     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  292-4     Citation Subset:  AIM; IM    
Children's Hospital, Sydney, Australia.
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MeSH Terms
Acyl-CoA Dehydrogenase
Fatty Acid Desaturases / deficiency*,  genetics
Hypoglycemia / etiology*
Infant, Newborn
Muscle Hypotonia / etiology*
Mutation / physiology
Sleep Stages*
Vomiting / etiology
Reg. No./Substance:
EC 1.14.19.-/Fatty Acid Desaturases; EC Dehydrogenase

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

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