TY - JOUR
T1 - 3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies
T2 - A coupled enzyme assay useful for their detection
AU - Narisawa, Kuniaki
AU - Gibson, Kenneth M.
AU - Sweetman, Lawrence
AU - Nyhan, William L.
N1 - Funding Information:
The authors thank Dr. M. Duran, Dr. S.K. Wadman, Dr. H.M. Cann and Dr. W.G. Wilson for cell lines. This work has supported by United States Public Health System Grant HD 04608 (L.S. and W.L.N.) and New Investigator Research Award NS 23876 (K.M.G.)
PY - 1989/9/15
Y1 - 1989/9/15
N2 - 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.
AB - 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.
KW - 3-Hydroxy-3-methylglutaryl-CoA lyase
KW - 3-Methylcrotonyl-CoA carboxylase
KW - 3-Methylglutaconyl-CoA hydratase
KW - Coupled enzyme assay
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U2 - 10.1016/0009-8981(89)90256-8
DO - 10.1016/0009-8981(89)90256-8
M3 - Article
C2 - 2480857
AN - SCOPUS:0024448817
SN - 0009-8981
VL - 184
SP - 57
EP - 64
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
IS - 1
ER -