Book chapter
Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria
Organic Acidurias : Proceedings of the 21st Annual Symposium of the SSIEM, Lyon, September 1983 The combined supplements 1 and 2 of Journal of Inherited Metabolic Disease Volume 7 (1984), (2), pp.99-100
Springer
1984
DOI: 10.1007/978-94-009-5612-4_24
PMID: 6434879
Abstract
The multiple acyl-CoA dehydrogenation disorders (MADD), which include a severe variant, glutaric aciduria type II (MADD/S; GA-II; McKusick 30595; Przyrembel et al., 1976) and a mild variant, ethyl-malonic—adipic aciduria (MADD/M; EMA; McKusick 23168; Mantagos et al., 1979) are clinically and biochemically related inborn errors of organic acid metabolism. We and others have suggested that they are caused by deficient electron transfer from the acyl-CoA dehydrogenases (ADH; EC 1.3.99) to the electrontransport chain (Goodman et al., 1982; Rhead et al., 1980). Our preliminary data now demonstrate electron-transferring flavoprotein (ETF) deficiency in several cases of GA-II and EMA.
Details
- Title: Subtitle
- Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria
- Creators
- W. J Rhead - University of IowaB. A Amendt - University of Iowa
- Resource Type
- Book chapter
- Publication Details
- Organic Acidurias : Proceedings of the 21st Annual Symposium of the SSIEM, Lyon, September 1983 The combined supplements 1 and 2 of Journal of Inherited Metabolic Disease Volume 7 (1984), (2), pp.99-100
- DOI
- 10.1007/978-94-009-5612-4_24
- PMID
- 6434879
- NLM abbreviation
- J Inherit Metab Dis
- eISBN
- 9789400956124; 9400956126
- ISSN
- 0141-8955
- eISSN
- 1573-2665
- Publisher
- Springer
- Language
- English
- Date published
- 1984
- Academic Unit
- Orthodontics; Anatomy and Cell Biology; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984284327302771
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