| Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency. | |
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MedLine Citation:
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PMID: 9657346 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Here we report on a patient with severe ("non-classic") carnitine palmitoyltransferase type II (CPT II) deficiency. Hypoglycemia prompted by an infectious episode and associated with non-ketotic dicarboxylic aciduria orientated diagnosis towards beta-oxidation deficiency disorders. Blood carnitine levels revealed a secondary carnitine deficiency that was responsive to oral L-carnitine supplementation. Blood acylcarnitine profiles were abnormal and included acetyl (C2:0), butyryl/isobutyryl (C4:0), isovaleryl/2-methylbutyryl (C5:0), hexanoyl (C6:0), myristoyl (C14:0), palmitoyl (C16:0), hexadecenoyl (C16:1), oleyl (C18:1) and stearoyl (C18:0) carnitine. In urine, excess excretion of dicarboxylylcarnitines, mainly dodecanedioylcarnitine, was noticed. Upon carnitine supplementation, C8 to C12 fatty acylcarnitines, with decanoylcarnitine as well as C10 to C14 dicarboxylylcarnitines being prominent, were observed in urine. Biochemical measurements disclosed a severe reduction of mitochondrial CPT II activity (7% of normal values). Correlations of metabolic findings in the patient and physiological roles of CPT II are briefly discussed. |
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Authors:
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M Fontaine; G Briand; C Largillière; P Degand; P Divry; C Vianey-Saban; B Mousson; J Vamecq |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Clinica chimica acta; international journal of clinical chemistry Volume: 273 ISSN: 0009-8981 ISO Abbreviation: Clin. Chim. Acta Publication Date: 1998 May |
Date Detail:
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Created Date: 1998-09-15 Completed Date: 1998-09-15 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 1302422 Medline TA: Clin Chim Acta Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 161-70 Citation Subset: IM |
Affiliation:
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Laboratoire de Biochimie, Hôpital Huriez, Centre Hospitalier Régional-Universitaire de Lille, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Carnitine
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blood,
urine Carnitine O-Palmitoyltransferase / deficiency* Cells, Cultured Female Fibroblasts / enzymology Humans Infant |
| Chemical | |
Reg. No./Substance:
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541-15-1/Carnitine; 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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