Enzymatic diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency with high-performance liquid chromatography

Masahiro Kikuchi, Kuniaki Narisawa, Keiya Tada, Laurence Sweetman

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

A new non-radiochemical method for determination of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase is described. Acetyl-CoA, the product of the enzymatic reaction, is separated from the substrate by high-performance liquid chromatography and is quantified. The mean 3-hydroxy-3-methylglutaryl-CoA lyase activity in control fibroblasts was 7.8 ± 2.1 (SD) nmol/min per mg protein, and its apparent Km value was 77.8 ± 14.3 μM (R/S mixture) with a calculated Vmax of 12.4 ± 2.2 nmol/min per mg protein. Using this method, we could easily differentiate a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency from control subjects.

Original languageEnglish (US)
Pages (from-to)297-301
Number of pages5
JournalClinica Chimica Acta
Volume189
Issue number3
DOIs
StatePublished - Aug 31 1990
Externally publishedYes

Keywords

  • 3-Hydroxy-3-methylglutaric aciduria
  • High-performance liquid chromatography
  • Hydroxymethylglutaryl-CoA lyase

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

Fingerprint Dive into the research topics of 'Enzymatic diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency with high-performance liquid chromatography'. Together they form a unique fingerprint.

Cite this