| Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities. | |
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MedLine Citation:
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PMID: 3211616 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Human carnitine palmitoyl transferase (CTP) deficiency results in two different clinical variants, one with "hepatic" and one with "muscular" symptoms. We studied CPT activity and long-chain fatty acid oxidation in fibroblast cell lines from four patients, two from each group. Overall CPT activity was deficient in patients' fibroblasts with the hepatic presentation, as previously demonstrated in patients' fibroblasts with the muscular presentation. The hepatic patients' fibroblasts displayed a CPT1 deficiency which resulted in impaired long-chain fatty acid oxidation. In contrast, CPT1 activity and palmitate oxidation were normal in muscular patients' fibroblasts. In these latter patients, the mutation presumably involved CPT2 activity. These data suggest that CPT deficiency is due to at least two different mutations, resulting in two distinct patterns of clinical and biochemical abnormalities. |
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Authors:
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F Demaugre; J P Bonnefont; G Mitchell; N Nguyen-Hoang; A Pelet; M Rimoldi; S Di Donato; J M Saudubray |
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Publication Detail:
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Type: Case Reports; Comparative Study; Journal Article |
Journal Detail:
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Title: Pediatric research Volume: 24 ISSN: 0031-3998 ISO Abbreviation: Pediatr. Res. Publication Date: 1988 Sep |
Date Detail:
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Created Date: 1989-02-23 Completed Date: 1989-02-23 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0100714 Medline TA: Pediatr Res Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 308-11 Citation Subset: IM |
Affiliation:
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Département de Biochimie, INSERM U75, CHU Necker, Paris, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acyltransferases
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deficiency* Carnitine O-Palmitoyltransferase / deficiency*, metabolism Cell Line Female Fibroblasts / enzymology Humans Infant Isoenzymes / deficiency, metabolism Kinetics Liver / enzymology* Male Muscles / enzymology* Reference Values |
| Chemical | |
Reg. No./Substance:
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0/Isoenzymes; EC 2.3.-/Acyltransferases; EC 2.3.1.21/Carnitine O-Palmitoyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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