A case of 3-hydroxy-3-methyl glutaric CoA lyase deficiency in north of Iran descent

The HMG-CoA lyase (HL) deficiency or 3-hydroxy-3-methylglutaric aciduria (MIM 246450) is a metabolic diseasethat is an inborn error of intermediary metabolism for the first time described in 1976. In this article we reported theclinical signs and symptoms and related lab test of this case to improve our knowledge. In this article our case waspresented with persistent vomiting from a day before admission and oliguria. But this patient had three history ofadmission due to pneumonia at 5 month, hypoglycemia at 7 month and acidosis at 8 month of age.

Keywords:

HMG-CoA lyase , deficiency