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Neonatal 5-oxoprolinuria: difficult-to-diagnose?

I S Mendelson, E Christie, W A Zaleski

Journal of Inherited Metabolic Disease

|January 1, 1983

Summary

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Neonatal metabolic acidosis and hemolytic anemia can indicate 5-oxoprolinuria, a rare genetic disorder. Early screening of blood glutathione and urine 5-oxoproline is recommended for timely diagnosis and intervention.

Area of Science:

Biochemistry
Pediatrics
Medical Genetics

Background:

5-Oxoprolinuria is a rare inherited metabolic disorder.
It is caused by a deficiency in glutathione synthetase.
This deficiency leads to the accumulation of 5-oxoproline and can cause severe health issues.

Observation:

A male newborn presented with metabolic acidosis and hemolytic anemia.
Initial suspicion of renal tubular acidosis was made, but further investigation was prompted by developmental delay and ataxia at age two.
Gas-liquid chromatography and mass spectrometry identified 5-oxoprolinuria.

Findings:

Erythrocyte glutathione levels were 25% of control values.
Erythrocyte glutathione synthetase activity was markedly reduced to 5% of control values.

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The patient exhibited neonatal metabolic acidosis, hemolytic anemia, and later developmental delay and ataxia.

Implications:

The study highlights the importance of considering 5-oxoprolinuria in neonates with metabolic acidosis and hemolytic anemia, especially when amino aciduria is absent.
It recommends screening for blood glutathione and urine 5-oxoproline in such cases.
Confirmation via glutathione synthetase assay is crucial for diagnosing neonatal 5-oxoprolinuria and enabling early management.