Abstract
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.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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3-Hydroxybutyric Acid
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Carbon-Carbon Ligases*
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Chromatography, High Pressure Liquid*
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Fibroblasts / enzymology
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Glutarates / analysis
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Glutarates / metabolism
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Humans
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Hydro-Lyases / deficiency*
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Hydro-Lyases / metabolism
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Hydroxybutyrates / analysis
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Hydroxybutyrates / metabolism
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Ligases / deficiency*
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Ligases / metabolism
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Meglutol / analysis
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Meglutol / metabolism
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Oxo-Acid-Lyases / deficiency*
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Oxo-Acid-Lyases / metabolism
Substances
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Glutarates
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Hydroxybutyrates
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3-methylglutaconic acid
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Meglutol
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Oxo-Acid-Lyases
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3-hydroxy-3-methylglutaryl-coenzyme A lyase
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Hydro-Lyases
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methylglutaconyl-CoA hydratase
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Ligases
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Carbon-Carbon Ligases
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methylcrotonoyl-CoA carboxylase
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3-Hydroxybutyric Acid