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 journalArticlepeer-review

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 languageEnglish (US)
Pages (from-to)57-64
Number of pages8
JournalClinica Chimica Acta
Volume184
Issue number1
DOIs
StatePublished - Sep 15 1989
Externally publishedYes

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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