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Cosa (chi) è 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency - definizione
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
MEDICAL CONDITION
HMG-CoA lyase deficiency; Hydroxymethylglutaryl lyase deficiency; Hydroxymethylglutaric aciduria; Hydroxymethylglutaryl-CoA lyase deficiency; 3-hydroxy 3-methyl glutaryl-coa lyase deficiency; HMG lyase deficiency; HMG CoA lyase deficiency; Hydroxymethylglutaricaciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is an uncommon inherited disorder in which the body cannot properly process the amino acid leucine. Additionally, the disorder prevents the body from making ketones, which are used for energy during fasting.
3-Hydroxy-3-methylglutaryl-CoA lyase
CLASS OF ENZYMES
Hydroxymethylglutaryl-CoA lyase; HMG-CoA lyase; EC 4.1.3.4; (S)-3-hydroxy-3-methylglutaryl-CoA acetoacetate-lyase (acetyl-CoA-forming); HMGCL; 3-hydroxy-3-methylglutaryl-CoA lyase
3-Hydroxy-3-methylglutaryl-CoA lyase (or HMG-CoA lyase) is an enzyme ( that in human is encoded by the HMGCL gene located on chromosome 1. It is a key enzyme in ketogenesis (ketone body formation).
HMG-CoA reductase
MAMMALIAN PROTEIN FOUND IN HOMO SAPIENS
HMGR; HMGCoA reductase; HMG CoA reductase; HMGCR; HMGCR (gene); 3-hydroxy-3-methyl-glutaryl-CoA reductase; 3-Hydroxy-3-methylglutaryl-coenzyme A reductase; 3-hydroxy-3-methylglutaryl-coenzyme A reductase
HMG-CoA reductase (3-hydroxy-3-methyl-glutaryl-coenzyme A reductase, official symbol HMGCR) is the rate-controlling enzyme (NADH-dependent, ; NADPH-dependent, ) of the mevalonate pathway, the metabolic pathway that produces cholesterol and other isoprenoids. HMGCR catalyzes the conversion of HMG-CoA to mevalonic acid, a necessary step in the biosynthesis of cholesterol.
