Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, volume 781, issue 1-2, pages 497-517

Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography–mass spectrometry

Tomiko Kuhara ¹

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Division of Human Genetics, Medical Research Institute, Kanazawa Medical University, 1‐1 Daigaku, Uchinada‐machi, Kahoku‐gun, Ishikawa 920‐0293, Japan |

Publication type: Journal Article

Publication date: 2002-12-02

Elsevier

Journal: Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences

Quartile SCImago

Quartile WOS

Impact factor: 3

ISSN: 15700232, 1873376X

DOI: 10.1016/s1570-0232(02)00670-0

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Biochemistry

General Medicine

Cell Biology

Clinical Biochemistry

Analytical Chemistry

Abstract

To diagnose inborn errors of metabolism, it would be desirable to simultaneously analyze and quantify organic acids, purines, pyrimidines, amino acids, sugars, polyols, and other compounds using a single-step fractionation; unfortunately, no such method currently exists. The present article will be concerned primarily with a practical yet comprehensive diagnostic procedure of inborn errors of metabolism (IEM). This procedure involves the use of urine or eluates from urine on filter paper, stable isotope dilution, and gas chromatography-mass spectrometry (GC-MS). This procedure not only offers reliable and quantitative evidence for diagnosing, understanding and monitoring the diseases, but also provides evidence for the diagnosis of new kinds of IEM. In this review, the differential diagnosis for hyperammonemia are described; deficiencies of ornithine carbamoyl transferase, argininosuccinate synthase (citrullinemia), argininosuccinate lyase and arginase, lysinuric protein intolerance, hyperammonemia-hyperornithinemia-homocitrullinemia syndrome, and citrullinemia type II. The diagnosis of IEM of purine and pyrimidine such as deficiencies of hypoxanthine-guanine phosphoribosyl transferase, adenine phosphoribosyl transferase, dihydropyrimidine dehydrogenase, dihydropyrimidinase and beta-ureidopropionase are described. During the pilot study for newborn screening, we found neonates with diseases at a rate of 1 per 1,400 including propionic acidemia, methylmalonic acidemia, orotic aciduria, beta-ureidopropionase deficiency, lactic aciduria and neuroblastoma. A rapid and reliable prenatal diagnosis for propionic acidemia is also described.

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Citations by journals

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Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences	Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, 4, 6.9% Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences 4 publications, 6.9%
Rapid Communications in Mass Spectrometry	Rapid Communications in Mass Spectrometry, 4, 6.9% Rapid Communications in Mass Spectrometry 4 publications, 6.9%
Analytical and Bioanalytical Chemistry	Analytical and Bioanalytical Chemistry, 2, 3.45% Analytical and Bioanalytical Chemistry 2 publications, 3.45%
Brain and Development	Brain and Development, 2, 3.45% Brain and Development 2 publications, 3.45%
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Experimental and Therapeutic Medicine	Experimental and Therapeutic Medicine, 1, 1.72% Experimental and Therapeutic Medicine 1 publication, 1.72%
Frontiers in Genetics	Frontiers in Genetics, 1, 1.72% Frontiers in Genetics 1 publication, 1.72%
Chromatographia	Chromatographia, 1, 1.72% Chromatographia 1 publication, 1.72%
Archives of Pharmacal Research	Archives of Pharmacal Research, 1, 1.72% Archives of Pharmacal Research 1 publication, 1.72%
Egyptian Journal of Medical Human Genetics	Egyptian Journal of Medical Human Genetics, 1, 1.72% Egyptian Journal of Medical Human Genetics 1 publication, 1.72%
Nature Protocols	Nature Protocols, 1, 1.72% Nature Protocols 1 publication, 1.72%
Pharmaceutical Chemistry Journal	Pharmaceutical Chemistry Journal, 1, 1.72% Pharmaceutical Chemistry Journal 1 publication, 1.72%
Microchemical Journal	Microchemical Journal, 1, 1.72% Microchemical Journal 1 publication, 1.72%
Analytica Chimica Acta	Analytica Chimica Acta, 1, 1.72% Analytica Chimica Acta 1 publication, 1.72%
Meta Gene	Meta Gene, 1, 1.72% Meta Gene 1 publication, 1.72%
Analytical Biochemistry	Analytical Biochemistry, 1, 1.72% Analytical Biochemistry 1 publication, 1.72%
Journal of Molecular Catalysis B Enzymatic	Journal of Molecular Catalysis B Enzymatic, 1, 1.72% Journal of Molecular Catalysis B Enzymatic 1 publication, 1.72%
International Journal of Mass Spectrometry	International Journal of Mass Spectrometry, 1, 1.72% International Journal of Mass Spectrometry 1 publication, 1.72%
Digestive and Liver Disease	Digestive and Liver Disease, 1, 1.72% Digestive and Liver Disease 1 publication, 1.72%
Journal of Pharmaceutical and Biomedical Analysis	Journal of Pharmaceutical and Biomedical Analysis, 1, 1.72% Journal of Pharmaceutical and Biomedical Analysis 1 publication, 1.72%
European Journal of Medical Genetics	European Journal of Medical Genetics, 1, 1.72% European Journal of Medical Genetics 1 publication, 1.72%
Journal of Mass Spectrometry	Journal of Mass Spectrometry, 1, 1.72% Journal of Mass Spectrometry 1 publication, 1.72%
American Journal of Medical Genetics, Part A	American Journal of Medical Genetics, Part A, 1, 1.72% American Journal of Medical Genetics, Part A 1 publication, 1.72%
Prenatal Diagnosis	Prenatal Diagnosis, 1, 1.72% Prenatal Diagnosis 1 publication, 1.72%
Mass Spectrometry Reviews	Mass Spectrometry Reviews, 1, 1.72% Mass Spectrometry Reviews 1 publication, 1.72%
Electrophoresis	Electrophoresis, 1, 1.72% Electrophoresis 1 publication, 1.72%
	1 2 3 4

Citations by publishers

	5 10 15 20
Elsevier	Elsevier, 20, 34.48% Elsevier 20 publications, 34.48%
Wiley	Wiley, 11, 18.97% Wiley 11 publications, 18.97%
Springer Nature	Springer Nature, 9, 15.52% Springer Nature 9 publications, 15.52%
Royal Society of Chemistry (RSC)	Royal Society of Chemistry (RSC), 2, 3.45% Royal Society of Chemistry (RSC) 2 publications, 3.45%
Spandidos Publications	Spandidos Publications, 1, 1.72% Spandidos Publications 1 publication, 1.72%
Frontiers Media S.A.	Frontiers Media S.A., 1, 1.72% Frontiers Media S.A. 1 publication, 1.72%
Pharmaceutical Society of Korea	Pharmaceutical Society of Korea, 1, 1.72% Pharmaceutical Society of Korea 1 publication, 1.72%
Pleiades Publishing	Pleiades Publishing, 1, 1.72% Pleiades Publishing 1 publication, 1.72%
Oxford University Press	Oxford University Press, 1, 1.72% Oxford University Press 1 publication, 1.72%
Walter de Gruyter	Walter de Gruyter, 1, 1.72% Walter de Gruyter 1 publication, 1.72%
American Association for Cancer Research (AACR)	American Association for Cancer Research (AACR), 1, 1.72% American Association for Cancer Research (AACR) 1 publication, 1.72%
Autonomous Non-profit Organization Editorial Board of the journal Uspekhi Khimii	Autonomous Non-profit Organization Editorial Board of the journal Uspekhi Khimii, 1, 1.72% Autonomous Non-profit Organization Editorial Board of the journal Uspekhi Khimii 1 publication, 1.72%
	5 10 15 20

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Kuhara T. Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography–mass spectrometry // Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences. 2002. Vol. 781. No. 1-2. pp. 497-517.

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TY - JOUR

DO - 10.1016/s1570-0232(02)00670-0

UR - https://doi.org/10.1016/s1570-0232(02)00670-0

TI - Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography–mass spectrometry

T2 - Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences

AU - Kuhara, Tomiko

PY - 2002

DA - 2002/12/02 00:00:00

PB - Elsevier

SP - 497-517

IS - 1-2

VL - 781

SN - 1570-0232

SN - 1873-376X

ER -

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@article{2002_Kuhara,

author = {Tomiko Kuhara},

title = {Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography–mass spectrometry},

journal = {Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences},

year = {2002},

volume = {781},

publisher = {Elsevier},

month = {dec},

url = {https://doi.org/10.1016/s1570-0232(02)00670-0},

number = {1-2},

pages = {497--517},

doi = {10.1016/s1570-0232(02)00670-0}

}

MLA

Cite this

MLA Copy

Kuhara, Tomiko. “Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography–mass spectrometry.” Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, vol. 781, no. 1-2, Dec. 2002, pp. 497-517. https://doi.org/10.1016/s1570-0232(02)00670-0.

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Publisher

Elsevier

Journal

Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences

Quartile SCImago

Quartile WOS

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ISSN

15700232 (Print)
1873376X (Electronic)