[Gluthathion synthetase deficit in a newborn infant].
METHODS
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.


CONCLUSIONS
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.
Fily
A
A
Service de médecine néonatale, hôpital Jeanne-de-Flandre, CHRU Lille, 59037 Lille cedex, France.
Vaillant
C
C
Truffert
P
P
Rouland
V
V
Dobbelaere
D
D
Kacet
N
N
D000015:Abnormalities, Multiple / Q000209:etiology* / Q000473:pathology; D005260:Female; D005981:Glutathione Synthase / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D011379:Prognosis; D014310:Triplets
D005981:Glutathione Synthase