Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia

Kana Gotoh, Yoko Nakajima, Go Tajima, Yoriko Watanabe, Yuji Hotta, Tomoya Kataoka, Yoshihiro Kawade, Naruji Sugiyama, Tetsuya Ito, Kazunori Kimura, Yasuhiro Maeda

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Propionic acidemia (PA) is an inherited metabolic disease caused by low activity of propionyl coenzyme A (CoA) carboxylase (PCC), which metabolizes propionyl-CoA into methylmalonyl-CoA. Although many patients with PA have been identified by tandem mass spectrometry since the test was first included in neonatal mass screening in the 1990s, the disease severity varies. Thus, determining the specific level of PCC activity is considered to be helpful to grasp the severity of PA. We developed a new PCC assay method by the determination of methylmalonyl-CoA, which is formed by an enzyme reaction using peripheral lymphocytes, based on ultra high-performance liquid chromatography tandem mass spectrometry (UPLC–MS/MS). With methylmalonyl-CoA concentrations of 0.05, 0.5, and 5 μmol/L, the intra-assay coefficients of variation (CVs) were 8.2%, 8.7%, and 5.1%, respectively, and the inter-assay CVs were 13.6%, 10.5%, and 5.9%, respectively. The PCC activities of 20 healthy individuals and 6 PA patients were investigated with this assay. Methylmalonyl-CoA was not detected in one PA patient with a severe form of the disease, but the remaining PA patients with mild disease showed residual activities (3.3–7.8%). These results demonstrate that determination of PCC activity with this assay would be useful to distinguish between mild and severe cases of PA to help choose an appropriate treatment plan.

Original languageEnglish
Pages (from-to)195-199
Number of pages5
JournalJournal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences
Volume1046
DOIs
Publication statusPublished - 01-03-2017

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Methylmalonyl-CoA Decarboxylase
Propionic Acidemia
High performance liquid chromatography
Tandem Mass Spectrometry
Mass spectrometry
Assays
High Pressure Liquid Chromatography
Lymphocytes
Neonatal Screening
Mass Screening
Screening
Metabolic Diseases
methylmalonyl-coenzyme A
Enzymes

All Science Journal Classification (ASJC) codes

  • Analytical Chemistry
  • Biochemistry
  • Clinical Biochemistry
  • Cell Biology

Cite this

Gotoh, Kana ; Nakajima, Yoko ; Tajima, Go ; Watanabe, Yoriko ; Hotta, Yuji ; Kataoka, Tomoya ; Kawade, Yoshihiro ; Sugiyama, Naruji ; Ito, Tetsuya ; Kimura, Kazunori ; Maeda, Yasuhiro. / Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia. In: Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences. 2017 ; Vol. 1046. pp. 195-199.
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abstract = "Propionic acidemia (PA) is an inherited metabolic disease caused by low activity of propionyl coenzyme A (CoA) carboxylase (PCC), which metabolizes propionyl-CoA into methylmalonyl-CoA. Although many patients with PA have been identified by tandem mass spectrometry since the test was first included in neonatal mass screening in the 1990s, the disease severity varies. Thus, determining the specific level of PCC activity is considered to be helpful to grasp the severity of PA. We developed a new PCC assay method by the determination of methylmalonyl-CoA, which is formed by an enzyme reaction using peripheral lymphocytes, based on ultra high-performance liquid chromatography tandem mass spectrometry (UPLC–MS/MS). With methylmalonyl-CoA concentrations of 0.05, 0.5, and 5 μmol/L, the intra-assay coefficients of variation (CVs) were 8.2{\%}, 8.7{\%}, and 5.1{\%}, respectively, and the inter-assay CVs were 13.6{\%}, 10.5{\%}, and 5.9{\%}, respectively. The PCC activities of 20 healthy individuals and 6 PA patients were investigated with this assay. Methylmalonyl-CoA was not detected in one PA patient with a severe form of the disease, but the remaining PA patients with mild disease showed residual activities (3.3–7.8{\%}). These results demonstrate that determination of PCC activity with this assay would be useful to distinguish between mild and severe cases of PA to help choose an appropriate treatment plan.",
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Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia. / Gotoh, Kana; Nakajima, Yoko; Tajima, Go; Watanabe, Yoriko; Hotta, Yuji; Kataoka, Tomoya; Kawade, Yoshihiro; Sugiyama, Naruji; Ito, Tetsuya; Kimura, Kazunori; Maeda, Yasuhiro.

In: Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, Vol. 1046, 01.03.2017, p. 195-199.

Research output: Contribution to journalArticle

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AU - Gotoh, Kana

AU - Nakajima, Yoko

AU - Tajima, Go

AU - Watanabe, Yoriko

AU - Hotta, Yuji

AU - Kataoka, Tomoya

AU - Kawade, Yoshihiro

AU - Sugiyama, Naruji

AU - Ito, Tetsuya

AU - Kimura, Kazunori

AU - Maeda, Yasuhiro

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