Ketone body metabolism and its defects.
Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y.
Fukao T, et al.
J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8.
J Inherit Metab Dis. 2014.
PMID: 24706027
Review.
Defects in ketogenesis include mitochondrial HMG-CoA synthase (mHS) deficiency and HMG-CoA lyase (HL) deficiency. mHS deficiency should be considered in non-ketotic hypoglycemia if a fatty acid beta-oxidation defect is suspected, but cannot be confirme …
Defects in ketogenesis include mitochondrial HMG-CoA synthase (mHS) deficiency and HMG-CoA lyase (HL) deficiency. mHS …