3-hydroxy-3-methylglutaryl-coenzyme A ly
✍
K. M. Gibson; J. Breuer; W. L. Nyhan
📂
Article
📅
1988
🏛
Springer
🌐
English
⚖ 714 KB
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is an inborn error of leucine catabolism which often leads to life-threatening illness in the neonatal period. The cardinal clinical features include severe infantile hypoglycemia, metabolic acidosis, hepatomegaly, lethargy or co