A coupled assay has been developed using 3-methylcrotonyl-CoA and NaH14CO3 which permits the detection of deficiencies of 3-methylcrotonyl-CoA carboxylase, 3-methylglutaconyl-CoA hydratase and 3-hydroxy-3-methylglutaryl CoA-lyase. The products of the reaction were analyzed by high performance liquid chromatography. Using this method the site of the defect was documented in a patient with deficiency of 3-methylcrotonyl-CoA carboxylase, 2 patients with deficiency of 3-methyl-glutaconyl-CoA hydratase, and 2 patients with deficiency of 3-hydroxy-3-methyl-glutaryl-CoA lyase.
- 3-Hydroxy-3-methylglutaryl-CoA lyase
- 3-Methylcrotonyl-CoA carboxylase
- 3-Methylglutaconyl-CoA hydratase
- Coupled enzyme assay
ASJC Scopus subject areas
- Clinical Biochemistry
- Biochemistry, medical