| Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. | |
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MedLine Citation:
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PMID: 9797590 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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R J Pollitt; J V Leonard |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Archives of disease in childhood Volume: 79 ISSN: 1468-2044 ISO Abbreviation: Arch. Dis. Child. Publication Date: 1998 Aug |
Date Detail:
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Created Date: 1998-11-04 Completed Date: 1998-11-04 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 0372434 Medline TA: Arch Dis Child Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 116-9 Citation Subset: AIM; IM |
Affiliation:
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Neonatal Screening Laboratory, Children's Hospital, Sheffield, UK. |
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* Age Distribution Great Britain / epidemiology Humans Hypoglycemia / enzymology Incidence Infant, Newborn Neonatal Screening Population Surveillance Prognosis Prospective Studies Survival Rate |
| Chemical | |
Reg. No./Substance:
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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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