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Related Experiment Videos

5-oxoprolinuria: biochemical observations and case report

S P Spielberg, L I Kramer, S I Goodman

    The Journal of Pediatrics
    |August 1, 1977
    PubMed
    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.

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    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.