| Effects of a fat load and exercise on asymptomatic VLCAD deficiency. | |
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MedLine Citation:
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PMID: 17457695 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The patient was identified via family screening at the age of 3 years when very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency was diagnosed in his sister by newborn screening. Enzyme and molecular analyses confirmed VLCAD-deficiency (VLCADD). Until the age of 8 years no severe illnesses occurred and the patient was completely asymptomatic without a fat-reduced and fat-modified diet. On regular follow-up, creatine kinase (CK) and liver transaminases were always in the normal range. A long-chain fat load with 1.5 g/kg body weight did not result in clinical symptoms, nor in elevation of CK or liver transaminases. At the age of 8 years, the patient for the first time complained of recurrent muscle pain after exercise. CK concentrations were elevated up to 20,000 U/L during one of these episodes. Medium-chain fat was supplemented. With a medium-chain fat-rich meal directly before exercise, muscle pain after exercise clearly decreased. In asymptomatic mild VLCADD, a fat-reduced diet may not be necessary, whereas in later infancy and adolescence, strenuous physical exercise may require additional energy from medium-chain fat. |
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Authors:
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U Spiekerkoetter |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2007-04-24 |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 30 ISSN: 1573-2665 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 2007 Jun |
Date Detail:
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Created Date: 2007-06-01 Completed Date: 2007-08-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: Netherlands |
Other Details:
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Languages: eng Pagination: 405 Citation Subset: IM |
Affiliation:
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Department of General Pediatrics, University Children's Hospital, Moorenstr. 5, 40225, Duesseldorf, Germany. ute.spiekerkoetter@uni-duesseldorf.de |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acyl-CoA Dehydrogenase, Long-Chain
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deficiency* Adipose Tissue / physiopathology* Child Dietary Fats* Exercise* Female Humans Infant, Newborn Lipid Metabolism, Inborn Errors / genetics, therapy* Male |
| Chemical | |
Reg. No./Substance:
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0/Dietary Fats; EC 1.3.99.13/Acyl-CoA Dehydrogenase, Long-Chain |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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