Disease

3-hydroxy-3-methylglutaric Aciduria

About the Disease
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency, also known as hydroxymethylglutaric aciduria, is related to 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency and lipase deficiency, combined, and has symptoms including angina pectoris An important gene associated with 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency is HMGCL (3-Hydroxy-3-Methylglutaryl-CoA Lyase). Affiliated tissues include liver, cortex and brain, and related phenotypes are hyperammonemia and metabolic acidosis

Common Targets
HMGCS2 | HMGCL

疾病靶点研报
3-hydroxy-3-methylglutaric Aciduria

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