The diagnosis of mitochondrial HMG-CoA synthase deficiency
作者： Johannes Zschocke , Johannes M Penzien , Rainer Bielen , Núria Casals , Rosa Aledo
关键词:
摘要: Deficiency of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase, the only disorder exclusively affecting hepatic ketogenesis, is a cause hypoglycemic coma. We report that 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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