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Case Reports
. 2002 Jun;140(6):778-80.
doi: 10.1067/mpd.2002.123854.

The diagnosis of mitochondrial HMG-CoA synthase deficiency

Johannes Zschocke  1 , Johannes M Penzien, Rainer Bielen, Núria Casals, Rosa Aledo, Juan Pié, Georg F Hoffmann, Fausto G Hegardt, Ertan Mayatepek
Affiliations
Case Reports

The diagnosis of mitochondrial HMG-CoA synthase deficiency

Johannes Zschocke et al. J Pediatr. 2002 Jun.

Abstract

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.

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