3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: A coupled enzyme assay useful for their detection

Kuniaki Narisawa; Kenneth M. Gibson; Lawrence Sweetman; William L. Nyhan

doi:10.1016/0009-8981(89)90256-8

3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: A coupled enzyme assay useful for their detection

Kuniaki Narisawa, Kenneth M. Gibson, Lawrence Sweetman, William L. Nyhan

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

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.

Original language	English (US)
Pages (from-to)	57-64
Number of pages	8
Journal	Clinica Chimica Acta
Volume	184
Issue number	1
DOIs	https://doi.org/10.1016/0009-8981(89)90256-8
State	Published - Sep 15 1989
Externally published	Yes

Keywords

3-Hydroxy-3-methylglutaryl-CoA lyase
3-Methylcrotonyl-CoA carboxylase
3-Methylglutaconyl-CoA hydratase
Coupled enzyme assay

ASJC Scopus subject areas

Biochemistry
Clinical Biochemistry
Biochemistry, medical

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10.1016/0009-8981(89)90256-8

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3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: A coupled enzyme assay useful for their detection. / Narisawa, Kuniaki; Gibson, Kenneth M.; Sweetman, Lawrence et al.
In: Clinica Chimica Acta, Vol. 184, No. 1, 15.09.1989, p. 57-64.

Research output: Contribution to journal › Article › peer-review

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title = "3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: A coupled enzyme assay useful for their detection",

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.",

keywords = "3-Hydroxy-3-methylglutaryl-CoA lyase, 3-Methylcrotonyl-CoA carboxylase, 3-Methylglutaconyl-CoA hydratase, Coupled enzyme assay",

author = "Kuniaki Narisawa and Gibson, {Kenneth M.} and Lawrence Sweetman and Nyhan, {William L.}",

note = "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.)",

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doi = "10.1016/0009-8981(89)90256-8",

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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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3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: A coupled enzyme assay useful for their detection

Abstract

Keywords

ASJC Scopus subject areas

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