The diagnosis of mitochondrial HMG-CoA synthase deficiency.
case_report · Level V
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- Record sourced from PubMed, PMID 12072887.
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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.
Medical subject headings
- Coenzyme A Ligases
- Metabolism, Inborn Errors
- Mitochondria, Liver