Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.
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.
Wolf
Nicole I
NI
Rahman
Shamima
S
Clayton
Peter T
PT
Zschocke
Johannes
J
D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006904:Hydroxymethylglutaryl-CoA Synthase / Q000172:deficiency* / Q000235:genetics*; D007003:Hypoglycemia / Q000209:etiology; D007223:Infant; D008930:Mitochondria, Liver / Q000201:enzymology*; D009154:Mutation
D006904:Hydroxymethylglutaryl-CoA Synthase