Glutathione Synthetase Deficiency
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- IYORI Hideaki
- Department of Pediatrics, the Jikei University School of Medicine
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- HIRONO Akira
- The Okinaka Memorial Institute for Medical Research
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- KOBAYASHI Naoaki
- Department of Pediatrics, the Jikei University School of Medicine
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- ISHITOYA Naoko
- Department of Pediatrics, Daisan Hospital, the Jikei University School of Medicine
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- AKATSUKA Jun-ichi
- Department of Pediatrics, Daisan Hospital, the Jikei University School of Medicine
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- KANNO Hitoshi
- The Okinaka Memorial Institute for Medical Research
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- FUJII Hisaichi
- Department of Transfusion Medicine, Tokyo Women's Medical College
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- MIWA Shiro
- The Okinaka Memorial Institute for Medical Research
Bibliographic Information
- Other Title
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- Glutathione synthetase異常症(本邦第1例)
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Abstract
Case report: The patient was a boy born in June, 1990. The proband's fater had a history of nonspherocytic hemolytic anemia. The patient was anemic at birth (Hb 11.9 g/dl) and had a hemolytic attack on postnatal day 2. His hemolysis became well compensated, and his second hemolytic episode occurred at three years of age. Clinical and laboratory findings: The patient's mental development has so far been normal and he has no neurological synptoms. His only clinical manifestation has been compensated hemolytic anemia with a hemoglobin concentration of about 11.0 g/dl and a reticulocyte count of 3-6%. He was positive on the Heinz body formation test, and target cells were seen on his peripheral blood smear. The osmotic fragility test yielded slightly increased value. Decreased reduced glutathione (GSH) was observed (4.4 mg/dlRBC) (normal range: 63.9±9.6), and he also had decreased glutathione synthetase (GS) activity of 0.03 U/gHb (0.38±0.08 U/gHb). A diagnosis of GS deficiency was made. Decreased glutathione S-transferase (GST) activity was also found (0.57 U/gHb) (normal range: 6.65±1.20). Discussion: GS deficiency has been reported in about 30 families all over the world. This patient was the first Japanese patient with red cell GS deficiency.
Journal
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- Rinsho Ketsueki
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Rinsho Ketsueki 37 (4), 329-334, 1996
The Japanese Society of Hematology
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Details 詳細情報について
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- CRID
- 1390282680003437184
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- NII Article ID
- 10005541607
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- NII Book ID
- AN00252940
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- COI
- 1:STN:280:DyaK283ksVygtQ%3D%3D
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- ISSN
- 18820824
- 04851439
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- PubMed
- 8847804
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- Text Lang
- ja
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- Data Source
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- JaLC
- PubMed
- CiNii Articles
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- Abstract License Flag
- Disallowed