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The diagnosis of mitochondrial HMG-CoA synthase deficiency

Deficiency of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase, the only disorder exclusively affecting hepatic ketogenesis, is a cause of hypoglycemic coma. We report that the diagnosis can be made by typical laboratory findings (hypoketosis, elevated free fatty acids, normal acylcarnitines, speci...

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Bibliographische Detailangaben
Hauptverfasser: Zschocke, Johannes (VerfasserIn) , Penzien, Johannes M. (VerfasserIn) , Bielen, Rainer (VerfasserIn) , Casals, Núria (VerfasserIn) , Aledo, Rosa (VerfasserIn) , Pié, Juan (VerfasserIn) , Hoffmann, Georg F. (VerfasserIn) , Hegardt, Fausto G. (VerfasserIn) , Mayatepek, Ertan (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 11 July 2002
In: The journal of pediatrics
Year: 2002, Jahrgang: 140, Heft: 6, Pages: 778-780
ISSN:1097-6833
DOI:10.1067/mpd.2002.123854
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1067/mpd.2002.123854
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0022347602000252
Volltext
Verfasserangaben:Johannes Zschocke, Johannes M. Penzien, Rainer Bielen, Núria Casals, Rosa Aledo, Juan Pié, Georg F. Hoffmann, Fausto G. Hegardt, Ertan Mayatepek

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