Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations
NI Wolf, S Rahman, PT Clayton, J Zschocke - European journal of …, 2003 - Springer
NI Wolf, S Rahman, PT Clayton, J Zschocke
European journal of pediatrics, 2003•SpringerWe 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.
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.
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.
Springer