[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder].

Abstract

3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder due to a deficiency of the 3-hydroxy-3-methylglutarylCoA lyase (HMG-CoA lyase), a mitochondrial enzyme involved in ketogenesis and in the final step of l-leucine catabolism. HMG-CoA lyase deficiency can lead, in particular circumstances, such as fever, prolonged fasting or… (More)
DOI: 10.1016/j.arcped.2009.09.022

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