HMG-CoA lyase deficiency
Causes
What gene causes HMG-CoA lyase deficiency?
HMG-CoA lyase deficiency is caused by changes (mutations) in the gene HMGCL. This gene provides instructions for making an enzyme called 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMG-CoA lyase). This enzyme is found in mitochondria, which are the energy-producing centers of the cell and works to break down proteins and fats from food.
References
- "HMG-CoA Lyase Deficiency - Genetics Home Reference - NIH." U.S. National Library of Medicine, National Institutes of Health, 2019, ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency Accessed 02JAN2019
- "HMGCL Gene - Genetics Home Reference - NIH." U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/gene/HMGCL#sourcesforpage Accessed 02JAN2019
