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Case Reports
. 2003 Apr;162(4):279-80.
doi: 10.1007/s00431-002-1110-x. Epub 2003 Feb 11.

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

Nicole I Wolf, Shamima Rahman, Peter T Clayton, Johannes Zschocke
Case Reports

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

Nicole I Wolf et al. Eur J Pediatr. 2003 Apr.

Abstract

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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