Newborn screening by matrix-assisted laser desorption/ionization mass spectrometry based on parylene-matrix chip

Jo Il Kim, Joo Yoon Noh, Mira Kim, Jong Min Park, Hyun Woo Song, Min Jung Kang, Jae Chul Pyun

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Newborn screening for diagnosis of phenylketonuria, homocystinuria, and maple syrup urine disease have been conducted by analyzing the concentration of target amino acids using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-ToF MS) based on parylene-matrix chip. Parylene-matrix chip was applied to MALDI-ToF MS analysis reducing the matrix peaks significantly at low mass-to-charge ratio range (m/z < 500). Reproducibility of inter-spot and intra-spot analyses of amino acids was less than 10%. Methanol extraction was adopted for simple and rapid sample preparation of serum before mass spectrometric analysis showing 13.3 to 45% of extraction efficiency. Calibration curves for diagnosis of neonatal metabolic disorders were obtained by analyzing methanol-extracted serum spiked with target amino acids using MALDI-ToF MS. They showed good linearity (R2 > 0.98) and the LODs were ranging from 9.0 to 22.9 μg/mL. Effect of proteins in serum was estimated by comparing MALDI-ToF mass spectra of amino acids-spiked serum before and after the methanol extraction. Interference of other amino acids on analysis of target analyte was determined to be insignificant. From these results, MALDI-ToF MS based on parylene-matrix chip could be applicable to medical diagnosis of neonatal metabolic disorders.

Original languageEnglish
Pages (from-to)31-39
Number of pages9
JournalAnalytical Biochemistry
Volume530
DOIs
Publication statusPublished - 2017 Aug 1

Fingerprint

Matrix-Assisted Laser Desorption-Ionization Mass Spectrometry
Ionization
Mass spectrometry
Desorption
Mass Spectrometry
Screening
Lasers
Amino Acids
Maple Syrup Urine Disease
Homocystinuria
Phenylketonurias
Methanol
Blood Proteins
Serum
parylene
Proteins

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

Cite this

Kim, Jo Il ; Noh, Joo Yoon ; Kim, Mira ; Park, Jong Min ; Song, Hyun Woo ; Kang, Min Jung ; Pyun, Jae Chul. / Newborn screening by matrix-assisted laser desorption/ionization mass spectrometry based on parylene-matrix chip. In: Analytical Biochemistry. 2017 ; Vol. 530. pp. 31-39.
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abstract = "Newborn screening for diagnosis of phenylketonuria, homocystinuria, and maple syrup urine disease have been conducted by analyzing the concentration of target amino acids using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-ToF MS) based on parylene-matrix chip. Parylene-matrix chip was applied to MALDI-ToF MS analysis reducing the matrix peaks significantly at low mass-to-charge ratio range (m/z < 500). Reproducibility of inter-spot and intra-spot analyses of amino acids was less than 10{\%}. Methanol extraction was adopted for simple and rapid sample preparation of serum before mass spectrometric analysis showing 13.3 to 45{\%} of extraction efficiency. Calibration curves for diagnosis of neonatal metabolic disorders were obtained by analyzing methanol-extracted serum spiked with target amino acids using MALDI-ToF MS. They showed good linearity (R2 > 0.98) and the LODs were ranging from 9.0 to 22.9 μg/mL. Effect of proteins in serum was estimated by comparing MALDI-ToF mass spectra of amino acids-spiked serum before and after the methanol extraction. Interference of other amino acids on analysis of target analyte was determined to be insignificant. From these results, MALDI-ToF MS based on parylene-matrix chip could be applicable to medical diagnosis of neonatal metabolic disorders.",
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Newborn screening by matrix-assisted laser desorption/ionization mass spectrometry based on parylene-matrix chip. / Kim, Jo Il; Noh, Joo Yoon; Kim, Mira; Park, Jong Min; Song, Hyun Woo; Kang, Min Jung; Pyun, Jae Chul.

In: Analytical Biochemistry, Vol. 530, 01.08.2017, p. 31-39.

Research output: Contribution to journalArticle

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AU - Noh, Joo Yoon

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AU - Kang, Min Jung

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