| Familial carnitine deficiency. A fatal case and subclinical state in a sister. | |
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MedLine Citation:
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PMID: 156248 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 15-year-old girl with a large accumulation of lipid in the muscle fibers, was suffering from systemic carnitine deficiency. She died in acidosis. The blood carnitine level was normal. At necropsy, carnitine levels were low in skeletal muscles and heart, whilst a normal level was found in the liver. Carnitine palmitoyltransferase II and palmitoyl-CoA synthetase activities were increased, whereas carnitine acetyltransferase, glycerol-3-phosphate dehydrogenase (FAD) and succinate dehydrogenase were decreased. Investigation of blood and skeletal muscle of the family members revealed marked abnormalities in a 7-year old sister who had only minor neurological symptoms. Histochemical investigation revealed abnormal accumulations of lipid between the myofibrils. Carnitine was decreased in her skeletal muscle and blood. Muscular carnitine palmitoyltransferase II and palmitoyl-CoA synthetase were again increased in activity while glycerol-3-phosphate dehydrogenase (FAD) was decreased. The activities of succinate dehydrogenase, carnitine palmitoyltransferase I and glycerol-3-phosphate dehydrogenase (NAD+) were normal. The unexpected normal carnitine level in blood and liver of the deceased patient was attributed to muscle wasting, which was confirmed by the very high blood level of creatine phosphokinase. This fatal case indicates that the fasting condition must be avoided in persons with carnitine deficiency. In crises, glucose supply is necessary since gluconeogenesis may be blocked. |
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Authors:
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H R Scholte; A E Meijer; G K van Wijngaarden; K L Leenders |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of the neurological sciences Volume: 42 ISSN: 0022-510X ISO Abbreviation: J. Neurol. Sci. Publication Date: 1979 Jun |
Date Detail:
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Created Date: 1979-08-29 Completed Date: 1979-08-29 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0375403 Medline TA: J Neurol Sci Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 87-101 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adenosine Triphosphatases
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metabolism Adolescent Carnitine / analysis, deficiency* Carnitine O-Palmitoyltransferase / metabolism Child Female Glycerolphosphate Dehydrogenase / metabolism Histocytochemistry Humans Isoenzymes / metabolism Lipid Metabolism Liver / analysis Muscles / metabolism* Myocardium / analysis Pedigree Succinate Dehydrogenase / metabolism |
| Chemical | |
Reg. No./Substance:
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0/Isoenzymes; 541-15-1/Carnitine; EC 1.1.-/Glycerolphosphate Dehydrogenase; EC 1.3.99.1/Succinate Dehydrogenase; EC 2.3.1.21/Carnitine O-Palmitoyltransferase; EC 3.6.1.-/Adenosine Triphosphatases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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