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Letter Case Reports
Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.
- Nicole I Wolf, Shamima Rahman, Peter T Clayton, and Johannes Zschocke.
- Eur. J. Pediatr. 2003 Apr 1; 162 (4): 279-80.
AbstractWe 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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