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Enzyme replacement therapy in a patient with hyperargininemia.
The Tohoku Journal of Experimental Medicine
|March 1, 1987
Summary
Erythrocyte exchange transfusion effectively manages hyperargininemia by controlling plasma arginine and ammonia levels. This enzyme replacement therapy offers sustained biochemical and clinical improvements for patients.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Hyperargininemia is a rare genetic disorder characterized by elevated plasma arginine levels.
- Standard treatments include dietary protein restriction and oral medications, which partially control ammonia but not arginine levels.
- Enzyme replacement therapy is being explored for managing this condition.