Glutathione synthetase deficiency

A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.

Aciduria

Excretion of urine with an acid pH.


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PMID (PMCID)
15074378
 FEMALE Infant, Newborn
A newborn infant with generalized glutathione synthetase deficiency.
Yapicioglu H, Satar M, Tutak E, Narli N, Topaloglu AK.
Turk J Pediatr. 2004;46(1):72-5.
Pyroglutamic aciduria (5-oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) or 5-oxoprolinase deficiency.