| Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. | |
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MedLine Citation:
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PMID: 8215568 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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B Wilcken; K H Carpenter; J Hammond |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Archives of disease in childhood Volume: 69 ISSN: 1468-2044 ISO Abbreviation: Arch. Dis. Child. Publication Date: 1993 Sep |
Date Detail:
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Created Date: 1993-11-03 Completed Date: 1993-11-03 Revised Date: 2009-11-19 |
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: 292-4 Citation Subset: AIM; IM |
Affiliation:
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Children's Hospital, Sydney, Australia. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acyl-CoA Dehydrogenase Fatty Acid Desaturases / deficiency*, genetics Female Humans Hypoglycemia / etiology* Infant, Newborn Male Muscle Hypotonia / etiology* Mutation / physiology Sleep Stages* Vomiting / etiology |
| Chemical | |
Reg. No./Substance:
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EC 1.14.19.-/Fatty Acid Desaturases; 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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