Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy

Akira Suzuki; Hironori Nagasaka; Yasuhiro Ochi; Kazuhiro Kobayashi; Hiroshi Nakamura; Daisaku Nakatani; Satoshi Yamaguchi; Shinobu Yamaki; Atsushi Wada; Yoshihisa Shirata; Shu Ping Hui; Tatsushi Toda; Hiroshi Kuroda; Hitoshi Chiba; Ken Ichi Hirano

doi:10.1016/j.ymgmr.2014.05.001

Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy

Akira Suzuki, Hironori Nagasaka, Yasuhiro Ochi, Kazuhiro Kobayashi, Hiroshi Nakamura, Daisaku Nakatani, Satoshi Yamaguchi, Shinobu Yamaki, Atsushi Wada, Yoshihisa Shirata, Shu Ping Hui, Tatsushi Toda, Hiroshi Kuroda, Hitoshi Chiba, Ken Ichi Hirano

Neurological and Psychiatric Disorders

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Abstract

Adipose triglyceride lipase (ATGL) deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy presents distinct fat-containing vacuoles known as Jordans' anomaly in peripheral leucocytes. To develop an automatic notification system for Jordans' anomaly in ATGL-deficient patients, we analyzed circulatory leukocyte scattergrams on automated hematology analyzer XE-5000. The BASO-WX and BASO-WY values were found to be significantly higher in patients than those in non-affected subjects. The two parameters measured by automated hematology analyzer may be expected to provide an important diagnostic clue for homozygous ATGL deficiency.

Original language	English
Pages (from-to)	249-253
Number of pages	5
Journal	Molecular Genetics and Metabolism Reports
Volume	1
Issue number	1
DOIs	https://doi.org/10.1016/j.ymgmr.2014.05.001
Publication status	Published - 2014

Keywords

Adipose triglyceride lipase deficiency
Automated hematology analyzer
BASO-WX and BASO-WY
Circulatory neutrophils
Jordans' anomaly
Triglyceride deposit cardiomyovasculopathy

ASJC Scopus subject areas

Molecular Biology
Genetics
Endocrinology

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Suzuki, A., Nagasaka, H., Ochi, Y., Kobayashi, K., Nakamura, H., Nakatani, D., Yamaguchi, S., Yamaki, S., Wada, A., Shirata, Y., Hui, S. P., Toda, T., Kuroda, H., Chiba, H., & Hirano, K. I. (2014). Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy. Molecular Genetics and Metabolism Reports, 1(1), 249-253. https://doi.org/10.1016/j.ymgmr.2014.05.001

Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy. / Suzuki, Akira; Nagasaka, Hironori; Ochi, Yasuhiro; Kobayashi, Kazuhiro; Nakamura, Hiroshi; Nakatani, Daisaku; Yamaguchi, Satoshi; Yamaki, Shinobu; Wada, Atsushi; Shirata, Yoshihisa; Hui, Shu Ping; Toda, Tatsushi; Kuroda, Hiroshi; Chiba, Hitoshi; Hirano, Ken Ichi.

In: Molecular Genetics and Metabolism Reports, Vol. 1, No. 1, 2014, p. 249-253.

Research output: Contribution to journal › Article › peer-review

Suzuki, A, Nagasaka, H, Ochi, Y, Kobayashi, K, Nakamura, H, Nakatani, D, Yamaguchi, S, Yamaki, S, Wada, A, Shirata, Y, Hui, SP, Toda, T, Kuroda, H, Chiba, H & Hirano, KI 2014, 'Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy', Molecular Genetics and Metabolism Reports, vol. 1, no. 1, pp. 249-253. https://doi.org/10.1016/j.ymgmr.2014.05.001

Suzuki A, Nagasaka H, Ochi Y, Kobayashi K, Nakamura H, Nakatani D et al. Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy. Molecular Genetics and Metabolism Reports. 2014;1(1):249-253. https://doi.org/10.1016/j.ymgmr.2014.05.001

Suzuki, Akira ; Nagasaka, Hironori ; Ochi, Yasuhiro ; Kobayashi, Kazuhiro ; Nakamura, Hiroshi ; Nakatani, Daisaku ; Yamaguchi, Satoshi ; Yamaki, Shinobu ; Wada, Atsushi ; Shirata, Yoshihisa ; Hui, Shu Ping ; Toda, Tatsushi ; Kuroda, Hiroshi ; Chiba, Hitoshi ; Hirano, Ken Ichi. / Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy. In: Molecular Genetics and Metabolism Reports. 2014 ; Vol. 1, No. 1. pp. 249-253.

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abstract = "Adipose triglyceride lipase (ATGL) deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy presents distinct fat-containing vacuoles known as Jordans' anomaly in peripheral leucocytes. To develop an automatic notification system for Jordans' anomaly in ATGL-deficient patients, we analyzed circulatory leukocyte scattergrams on automated hematology analyzer XE-5000. The BASO-WX and BASO-WY values were found to be significantly higher in patients than those in non-affected subjects. The two parameters measured by automated hematology analyzer may be expected to provide an important diagnostic clue for homozygous ATGL deficiency.",

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author = "Akira Suzuki and Hironori Nagasaka and Yasuhiro Ochi and Kazuhiro Kobayashi and Hiroshi Nakamura and Daisaku Nakatani and Satoshi Yamaguchi and Shinobu Yamaki and Atsushi Wada and Yoshihisa Shirata and Hui, {Shu Ping} and Tatsushi Toda and Hiroshi Kuroda and Hitoshi Chiba and Hirano, {Ken Ichi}",

note = "Funding Information: The authors would like to thank Dr. Toshimitsu Hamasaki for giving us valuable advice on statistical analysis. This work is supported by a research grant for rare and intractable diseases from the Ministry of Health, Labour, and Welfare of Japan . Y.O., A.W. and Y.S. are employees of Sysmex Corporation. ",

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