3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.
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.
Narisawa
K
K
Department of Pediatrics, University of California, San Diego, La Jolla.
Gibson
K M
KM
Sweetman
L
L
Nyhan
W L
WL
D020155:3-Hydroxybutyric Acid; D019735:Carbon-Carbon Ligases; D002851:Chromatography, High Pressure Liquid; D005347:Fibroblasts / Q000201:enzymology; D005977:Glutarates / Q000032:analysis / Q000378:metabolism; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency* / Q000378:metabolism; D006885:Hydroxybutyrates / Q000032:analysis / Q000378:metabolism; D008025:Ligases / Q000172:deficiency* / Q000378:metabolism; D015093:Meglutol / Q000032:analysis / Q000378:metabolism; D007652:Oxo-Acid-Lyases / Q000172:deficiency* / Q000378:metabolism
D005977:Glutarates; D006885:Hydroxybutyrates; C022034:3-methylglutaconic acid; D015093:Meglutol; D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase; D006836:Hydro-Lyases; C035867:methylglutaconyl-CoA hydratase; D008025:Ligases; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D020155:3-Hydroxybutyric Acid