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5-oxoprolinuria: biochemical observations and case report
The Journal of Pediatrics
|August 1, 1977
Summary
This study details a patient with 5-oxoprolinuria, a condition caused by glutathione synthetase deficiency. The patient experienced neonatal hemolysis and acidosis but shows normal development, highlighting the ongoing need for treatment.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- 5-oxoprolinuria is a rare metabolic disorder.
- Neonatal presentation can include hemolysis and metabolic acidosis.
- Glutathione synthetase deficiency is the underlying cause.