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Neonatal 5‐oxoprolinuria: Difficult‐to‐diagnose?
Author(s) -
Mendelson I. S.,
Christie E.,
Zaleski W. A.,
MacKenzie S. L.,
Wellner V. P.,
Meister A.
Publication year - 1983
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02391193
Subject(s) - metabolic acidosis , glutathione , acidosis , medicine , sodium bicarbonate , urine , glutathione synthetase , endocrinology , biochemistry , chemistry , enzyme
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.