[Gluthathion synthetase deficit in a newborn infant]

We report an observation of a triplet newborn presenting with haemolysis, metabolic acidosis with no lactic acidosis revealing a glutathione synthetase deficiency. These biological signs were associated with multiple malformations (IUGR, toes hypoplasia and cerebral ventricular anomalies), not described in this disease.

This rare diagnosis can be confirmed by elevation of urinary 5-oxoproline. Prognosis is linked to diagnosis and treatment precocity. We have no argument to think that the malformations we found are related to a glutathione synthetase deficiency. However, as the neurological evolution is often unfavourable, neuroradiological explorations could give information about the location and severity of potential cerebral lesions.