title: 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.
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.
authors.affiliation: Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics (CNT), Graduate School of Medicine, Osaka University, Suita, Osaka 565-0874, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Suzuki
authors.affiliation: Department of Pediatrics, Takarazuka City Hospital, Takarazuka 665-0827, Japan.
authors.forename: Hironori
authors.initials: H
authors.lastname: Nagasaka
authors.affiliation: Scientific Affairs, Sysmex Corporation, Kobe 651-2241, Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Ochi
authors.affiliation: Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Kobayashi
authors.affiliation: Department of Community Health and Medicine, Yamaguchi University, School of Medicine, Ube 755-8505, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nakamura
authors.affiliation: Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics (CNT), Graduate School of Medicine, Osaka University, Suita, Osaka 565-0874, Japan.
authors.forename: Daisaku
authors.initials: D
authors.lastname: Nakatani
authors.affiliation: Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics (CNT), Graduate School of Medicine, Osaka University, Suita, Osaka 565-0874, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Yamaguchi
authors.affiliation: Faculty of Health Sciences, Hokkaido University, Sapporo 060-0812, Japan.
authors.forename: Shinobu
authors.initials: S
authors.lastname: Yamaki
authors.affiliation: Scientific Affairs, Sysmex Corporation, Kobe 651-2241, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Wada
authors.affiliation: Sapporo Branch, Sysmex Corporation, Sapporo 060-0002, Japan.
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Shirata
authors.affiliation: Faculty of Health Sciences, Hokkaido University, Sapporo 060-0812, Japan.
authors.forename: Shu-Ping
authors.initials: SP
authors.lastname: Hui
authors.affiliation: Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
authors.forename: Tatsushi
authors.initials: T
authors.lastname: Toda
authors.affiliation: Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kuroda
authors.affiliation: Faculty of Health Sciences, Hokkaido University, Sapporo 060-0812, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Chiba
authors.affiliation: Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics (CNT), Graduate School of Medicine, Osaka University, Suita, Osaka 565-0874, Japan.
authors.forename: Ken-Ichi
authors.initials: KI
authors.lastname: Hirano
keywords: ATGL, adipose triglyceride lipase; Adipose triglyceride lipase deficiency; Automated hematology analyzer; BASO-WX and BASO-WY; Circulatory neutrophils; Jordans' anomaly; NLSD-M, Neutral lipid storage disease with myopathy (NLSD-M); TGCV, triglyceride deposit cardiomyovasculopathy; Triglyceride deposit cardiomyovasculopathy