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 |
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Pages (from-to) | 249-253 |
Number of pages | 5 |
Journal | Molecular Genetics and Metabolism Reports |
Volume | 1 |
Issue number | 1 |
DOIs | |
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