Abstract
Summary: Incubation of intact fibroblasts from a patient with glutaric aciduria type II with [2-14C]riboflavin showed normal synthesis of flavin mononucleotide and flavin adenine dinucleotide. This is taken as evidence for normal transport of riboflavin into the cells and normal activity of riboflavin kinase (EC 2.7.1.26) and flavin mononucleotide adenylyltransferase (EC 2.7.7.2).
The ability of intact fibroblasts to oxidize 1-14C-fatty acids and [6-14C]lysine is impaired in the patient which together with the urinary excretion pattern of organic acids indicates a defective dehydrogenation of fatty acid acyl-CoAs and glutaryl-CoA. However, dehydrogenation of (C6-C10) fatty acid acyl-CoA derivatives and glutaryl-CoA was normal when the dehydrogenases were measured in fibroblast homogenate with artificial electron acceptors. In vivo, these dehydrogenases transfer their electrons to CoQ10 in the main electron transport chain via electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase. Glutaric aciduria type II fibroblasts showed very diminished activity when the glutaryl-CoA dehydrogenase activity was measured without artificial electron acceptor but with intact endogenous electron transport system. As the NADH and succinate oxidation seems normal in glutaric aciduria type II patients, this is strong evidence for a defect in either the electron transfer flavoprotein or the electron transfer flavoprotein dehydrogenase.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Christensen, E., Kølvraa, S. & Gregersen, N. Glutaric Aciduria Type II: Evidence for a Defect Related to the Electron Transfer Flavoprotein or Its Dehydrogenase. Pediatr Res 18, 663–667 (1984). https://doi.org/10.1203/00006450-198407000-00020
Issue Date:
DOI: https://doi.org/10.1203/00006450-198407000-00020
This article is cited by
-
Mitochondrial Fatty Acid Oxidation Disorders Associated with Cardiac Disease
Current Pathobiology Reports (2017)
-
Mitochondrial fatty acid oxidation defects—remaining challenges
Journal of Inherited Metabolic Disease (2008)
-
Recurrent, familial Reye-like syndrome with a new complex amino and organic aciduria
European Journal of Pediatrics (1990)
-
The biochemical basis of mitochondrial diseases
Journal of Bioenergetics and Biomembranes (1988)
-
The inborn errors of mitochondrial fatty acid oxidation
Journal of Inherited Metabolic Disease (1987)