3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency shows a characteristic pattern of elevated urinary concentrations of 3-hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid, 3-methylglutaconic acid and 3-methylglutaric acid. Confirmation of the enzyme defect can be obtained by direct assay of the enzyme in leukocytes or fibroblasts. Quantification of 3-hydroxy-3-methylglutaric acid in amniotic fluid contributes to prenatal diagnosis of the disease.
- 3-hydroxy-3-methylglutaric acid
- 3-hydroxy-3-[2H3]methylglutaric acid