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  • Title: The diagnosis of mitochondrial HMG-CoA synthase deficiency.
    Author: Zschocke J, Penzien JM, Bielen R, Casals N, Aledo R, Pié J, Hoffmann GF, Hegardt FG, Mayatepek E.
    Journal: J Pediatr; 2002 Jun; 140(6):778-80. PubMed ID: 12072887.
    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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