Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.

Abstract excerpt

We report two additional patients in whom hypoketotic hypoglycaemia was caused by a deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMCM); two novel mutations were identified (V54M and Y167C), one of which directly involves the catalytic site of the enzyme.

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