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[Glutathione synthetase deficiency]
H Iyori1, A Hirono, N Kobayashi
1Department of Paediatrics, the Jikei University School of Medicine, Tokyo, Japan.
Summary
This study reports the first Japanese patient diagnosed with red cell glutathione synthetase (GS) deficiency, a rare inherited condition causing hemolytic anemia. Early diagnosis and management are crucial for patients with this genetic disorder.
Area of Science:
- Biochemistry
- Hematology
- Genetics
Background:
- Nonspherocytic hemolytic anemia can be inherited, presenting with varying severity.
- Red cell glutathione synthetase (GS) deficiency is a rare enzyme defect impacting red blood cell survival.
Observation:
- A Japanese male infant presented with compensated hemolytic anemia since birth.
- Clinical findings included Heinz body formation, target cells, and increased osmotic fragility.
- Laboratory tests revealed significantly decreased reduced glutathione (GSH) and GS activity.
Findings:
- The patient exhibited markedly reduced glutathione synthetase (GS) activity, confirming GS deficiency.
- Reduced glutathione S-transferase (GST) activity was also noted.
- The patient had no neurological symptoms, with normal mental development.
Implications:
- This case represents the first documented instance of red cell GS deficiency in a Japanese patient.
- Highlights the importance of biochemical testing for diagnosing rare inherited hemolytic anemias.
- Contributes to the global understanding of GS deficiency, previously reported in approximately 30 families worldwide.