Catalog

3-hydroxy 3-methylglutaryl-CoA lyase deficiency

No MMS code

Link to WHO Definition

3-hydroxy 3-methylglutaryl-CoA lyase deficiency – http://id.who.int/icd/entity/608791742

3-hydroxy-3-methylglutaric aciduria is an organic aciduria due to 3-hydroxy-3-methylglutaryl-CoA-lyase deficiency, a key enzyme in ketogenesis and in leucine metabolism. Onset occurs in infancy with transient acidosis and hypoglycaemia, hypotonia and vomiting triggered by periods of fasting or infections.