Nederlandse Vereniging voor Klinische Chemie en Laboratoriumgeneeskunde
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Project 300 Mitochondrial beta-oxidation: genetic deficiency and therapy
Onderzoekslijn Fatty acids and fatty acid metabolism
Omschrijving Under fasting conditions patients with a fatty acid B-oxidation disorder develop hypoketotic hypoglycemia due to an inability to generate acetyl-CoA resulting in low levels of ketone bodies and an inability to generate sufficient glucose. Apart from that presenting symptoms including lethargy leading to coma, Reye-like syndrome, acute life threatening event (ALTE), muscle weakness, cardiac problems, hepatomegaly and abnormal laboratory findings (hyperuricemia, hyperammonemia, dicarboxylic aciduria, acidosis, increased activity of alanine and aspartate aminotransferases and of creatine kinase and alterations in plasma or tissue carnitine concentration) can appear. However, fatty acid oxidation defects only produce abnormalities intermittendy. So during an acute
attack only the urinary organic acid proÍile and blood carnitine levels can give an indication for inherited fatty acid oxidation disorders. The study described in this thesis was undertaken to try to shed more light upon this group of disorders.
For this purpose we have developed sensitive and reliable enzyme assays for diagnosis of several fatty acid B-oxidation deficiencies including short-chain, medium-chain, and (very) long-chain acyi-CoA dehydrogenase (see chapters 2-a). The concentration of the
3-hydroxy fatty acid acyl-CoA, formed from the substrate fatty acid acyl-CoA during the enzyme assay, could be measured after hydrolysis as its 3-hydroxy fatty acid. For quantification we have used stable isotopes and gas chromatography/mass spectrometry
(GC-MS).
Projectleider Dr. K.E.(Klary) Niezen-Koning
Instituut Universitair Medisch Centrum Groningen Groningen
Trefwoorden mitochondriale vetzuuroxidatie, MCAD deficientie
Status Afgesloten
Periode 1-1995 - 11-1995
Partners promotores prof dr H.S A. Heymans, prof dr D Hoekstra
Medewerkers
Financiering 1e Geldstroom - Intern

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