| Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. | |
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MedLine Citation:
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PMID: 15858970 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a favourable case of MCAD deficiency (homozygous 985A > G) that presented as lethargy, poor feeding, pulmonary haemorrhage and cardiac arrest without hypoglycaemia. The cessation of intralipid and the commencement of carnitine supplementation were associated with a rapid clinical improvement. CONCLUSION: Mild carnitine depletion and secondary impairment of long-chain fatty acid metabolism may have contributed to post-asphyxial myocardial dysfunction and ventricular arrhythmias. Metabolic disorders must be kept in mind as a differential diagnosis in acutely ill infants, but it must also be emphasized that carnitine therapy is not uniformly effective in all MCAD patients. |
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Authors:
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K Maclean; V S Rasiah; E P E Kirk; K Carpenter; S Cooper; K Lui; J Oei |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Acta paediatrica (Oslo, Norway : 1992) Volume: 94 ISSN: 0803-5253 ISO Abbreviation: Acta Paediatr. Publication Date: 2005 Jan |
Date Detail:
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Created Date: 2005-04-29 Completed Date: 2005-06-07 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9205968 Medline TA: Acta Paediatr Country: Norway |
Other Details:
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Languages: eng Pagination: 114-6 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Sydney 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
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deficiency* Heart Arrest / etiology* Hemorrhage / etiology* Humans Infant, Newborn Lung Diseases / etiology* Male |
| Chemical | |
Reg. No./Substance:
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EC 1.3.99.3/Acyl-CoA Dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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