Neonatal 5-oxoprolinuria: difficult-to-diagnose?

Abstract

A male newborn infant presented with metabolic acidosis and haemolytic anaemia. Renal tubular acidosis was suspected in the absence of amino aciduria and the patient was treated with sodium bicarbonate. Two years later, the chronic acidosis, clinical observation of developmental delay and ataxia prompted further investigational studies. 5-Oxoprolinuria was identified by gas-liquid chromatography and confirmed by mass spectrometry after an initial mass spectrum analysis reported a glutamic acid artifact. Glutathione and glutathione synthetase in erythrocytes were 25% and 5% of control values, respectively. On the basis of neonatal metabolic acidosis, without amino aciduria and an elevated reticulocyte count, a recommendation is made for blood glutathione and urine 5-oxoproline screening, followed by glutathione synthetase assay for confirmation of neonatal 5-oxoprolinuria.

• Authors: I S Mendelson, E Christie, W A Zaleski, S L MacKenzie, V P Wellner, A Meister
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 6 Issue 1 Pg. 44-8 ( 1983) ISSN: 0141-8955 [Print] United States
• PMID: 6408309 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Pyrrolidinones
• Peptide Synthases
• Glutathione Synthase
• Glutathione
• Pyrrolidonecarboxylic Acid

Topics

• Acidosis (diagnosis)
• Diagnosis, Differential
• Erythrocytes (analysis)
• Glutathione (analysis)
• Glutathione Synthase (analysis)
• Humans
• Infant, Newborn
• Male
• Metabolic Diseases (diagnosis)
• Peptide Synthases (analysis)
• Pyrrolidinones (urine)
• Pyrrolidonecarboxylic Acid (urine)