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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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Main Authors: Zschocke, Johannes (Author) , Penzien, Johannes M. (Author) , Bielen, Rainer (Author) , Casals, Núria (Author) , Aledo, Rosa (Author) , Pié, Juan (Author) , Hoffmann, Georg F. (Author) , Hegardt, Fausto G. (Author) , Mayatepek, Ertan (Author)
Format: Article (Journal)
Language:English
Published: 11 July 2002
In: The journal of pediatrics
Year: 2002, Volume: 140, Issue: 6, Pages: 778-780
ISSN:1097-6833
DOI:10.1067/mpd.2002.123854
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1067/mpd.2002.123854
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0022347602000252
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Author Notes: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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Summary: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, specific urinary organic acids) during acute episodes. (J Pediatr 2002;140:778-80)
Item Description:Gesehen am 31.03.2022
Physical Description:Online Resource
ISSN:1097-6833
DOI:10.1067/mpd.2002.123854

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