Document Detail


Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.
MedLine Citation:
PMID:  9797590     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a common disorder of fatty acid oxidation in north west Europe. It is very variable in its clinical consequences and is believed to be considerably underdiagnosed. OBJECTIVE: To investigate the diagnosis and outcome of MCAD deficiency in the UK. METHOD: A prospective surveillance study through the British Paediatric Surveillance Unit. RESULTS: Of 62 affected individuals identified, 57 were from England, giving an incidence of 4.5 cases/100,000 births. Forty six cases presented with an acute illness (10 of whom died), 13 cases were identified because of family history, and three for other reasons. Six of the survivors were neurologically impaired. CONCLUSIONS: Despite increased clinical awareness, the mortality and morbidity from MCAD deficiency remain high. The frequency and severity of the disease support the case for the introduction of universal neonatal screening in England and Scotland.
Authors:
R J Pollitt; J V Leonard
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Archives of disease in childhood     Volume:  79     ISSN:  1468-2044     ISO Abbreviation:  Arch. Dis. Child.     Publication Date:  1998 Aug 
Date Detail:
Created Date:  1998-11-04     Completed Date:  1998-11-04     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0372434     Medline TA:  Arch Dis Child     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  116-9     Citation Subset:  AIM; IM    
Affiliation:
Neonatal Screening Laboratory, Children's Hospital, Sheffield, UK.
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MeSH Terms
Descriptor/Qualifier:
Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenases / deficiency*
Age Distribution
Great Britain / epidemiology
Humans
Hypoglycemia / enzymology
Incidence
Infant, Newborn
Neonatal Screening
Population Surveillance
Prognosis
Prospective Studies
Survival Rate
Chemical
Reg. No./Substance:
EC 1.3.-/Acyl-CoA Dehydrogenases; EC 1.3.99.3/Acyl-CoA Dehydrogenase
Comments/Corrections

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


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