Abstract
Normal glutaric aciduria type II (GA II, McKusick 23168) is a fatal inborn error of metabolism with onset within the first days of life (Przyrembel et al., 1976; Gregersen et al., 1980). It is characterized by the urinary excretion of a number of organic acids that seem to be derived from substrates to a group of FAD containing acyl-CoA dehydrogenases. These dehydrogenases all transfer electrons to the electron-transport chain (ETC) through electron transfer flavoprotein (ETF) and ETF dehydrogenase (ETF DH).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
References
Christensen, E. Improved assay of glutaryl-CoA dehy-drogenase in cultured cells and liver: Application to glutaric aciduria type I. Clin. Chim. Acta 129 (1983) 91–97.
Christensen, E., Kølvraa, S. and Gregersen, N. Glutaric aciduria type II: Evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase. Pediatr. Res. (1984). In press.
Coude, F. X., Ogier, H., Charpentier, C., Thomassin, G., Checoury, A., Amedée-Manesme, O., Saudubray, J. M. and Frézal, J. Neonatal glutaric aciduria type II: An X-linked recessive inherited disorder. Hum. Genet. 59 (1981) 263–265.
Dusheiko, G., Kew, M. C., Joffe, B. L., Lewin, J. R., Path, F. F., Mantagos, S. and Tanaka, K. Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. N. Engl. J. Med. 301 (1979) 1405–1409.
Goodman, S. I., Stene, D. O., McCabe, E. R. B., Norenberg, M. D., Shikes, R. H., Stumpf, D. A. and Blackburn, G. K. Glutaric acidemia type II: Clinical, biochemical, and morphologic considerations. J. Pediatr. 100 (1982) 946–950.
Gregersen, N., Kølvraa, S., Rasmussen, K., Christensen, E., Brandt, N. J., Ebbesen, F. and Hansen, F. H. Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II. J. Inher. Metab. Dis. 3 (1980) 67–72.
Gregersen, N., Wintzensen, H., Kølvraa, S., Christensen, E., Christensen, M. F., Brandt, N. J. and Rasmussen, K. C6-C10-Dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehy-drogenation defects. Pediatr. Res. 16 (1982) 861–868.
Przyrembel, H., Wendel, U., Becker, K., Bremer, H. J., Bruinvis, L., Ketting, D. and Wadman, S. K. Glutaric aciduria type II: Report of a previously undescribed metabolic disorder. Clin. Chim. Acta 66 (1976) 227–239.
Sweetman, L., Nyhan, W. L., Trauner, D. A., Merritt, A. and Singh, M. Glutaric aciduria type II. J. Pediatr. 96 (1980) 1020–1026.
Author information
Authors and Affiliations
Editor information
Rights and permissions
Copyright information
© 1984 SSIEM and MTP Press Limited, Queen Square, Lancaster
About this chapter
Cite this chapter
Christensen, E. (1984). Glutaryl-CoA Dehydrogenase Activity Determined with Intact Electron-transport Chain: Application to Glutaric Aciduria Type II. In: Addison, G.M., Chalmers, R.A., Divry, P., Harkness, R.A., Pollitt, R.J. (eds) Organic Acidurias. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-5612-4_26
Download citation
DOI: https://doi.org/10.1007/978-94-009-5612-4_26
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-010-8975-3
Online ISBN: 978-94-009-5612-4
eBook Packages: Springer Book Archive