Mitochondrial HMG-CoA synthase deficiency is a rare inherited metabolic disorder that
affects ketone-body synthesis. Acute episodes include vomiting, lethargy, hepatomegaly,
hypoglycaemia, dicarboxylic aciduria, and in severe cases, coma. This deficiency may have
been under-diagnosed owing to the absence of specific clinical and biochemical markers,
limitations in liver biopsy and the lack of an effective method of expression and enzyme
assay for verifying the mutations found. To date, eight patients have been reported with nine …