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An inquiry to a possible fatty acid metabolism defect due to carnitine deficiency in patient fibroblast, analysed with a tritium release assay
Örebro University, School of Health and Medical Sciences.
2008 (English)Independent thesis Basic level (degree of Bachelor), 10 credits / 15 HE creditsStudent thesis
Abstract [en]

The formation of tritiated water from [9,10-3H]-palmitic acid has been recommended as an adequate screening method to detect patients with fatty acid oxidation disorders. Intact cultured fibroblasts from three patients (a young girl, the Mother and Grandfather) plus controls have been studied using this method with 3H-palmitic acid at the presence or absent of excess of carnitine. The patients were suspected to have an aberrant carnitine transport over the cell membrane, which probably could secondary affects the fatty acid metabolism.

No differences were found in β-oxidation of 3H-palmytic acid between fibroblasts from patients compared to healthy controls. Excess of carnitine did not shown any effect on β-oxidation of 3H-palmytic acid either

The results showed that the patients’ fibroblasts did not have a decreased β-oxidation capacity and no significant difference when treated with carnitine compared to the matched healthy controls. This study cannot link the patient’s symptoms with an aberrant carnitine transport over cell membrane or any defect in β-oxidation of fatty acid metabolism.

Place, publisher, year, edition, pages
2008. , 21 p.
Keyword [en]
Carnitine deficiency, fatty acid metabolism deficiency, hypoglycaemia, Fibroblast, tritium, tritium release assay, palmitic acid
National Category
Clinical Science
Identifiers
URN: urn:nbn:se:oru:diva-4938OAI: oai:DiVA.org:oru-4938DiVA: diva2:139241
Presentation
(English)
Uppsok
lantbruk/veterinärmed./skogl. vetenskap
Supervisors
Examiners
Available from: 2009-07-13 Created: 2009-07-13Bibliographically approved

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