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

Nicole I Wolf; Shamima Rahman; Peter T Clayton; Johannes Zschocke

doi:10.1007/s00431-002-1110-x

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

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

Authors

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

PMID: 12647205
DOI: 10.1007/s00431-002-1110-x

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.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Child, Preschool
DNA Mutational Analysis
Female
Humans
Hydroxymethylglutaryl-CoA Synthase / deficiency*
Hydroxymethylglutaryl-CoA Synthase / genetics*
Hypoglycemia / etiology
Infant
Mitochondria, Liver / enzymology*
Mutation*

Substances

Hydroxymethylglutaryl-CoA Synthase