HMG-CoA lyase deficiency


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.


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