Title : Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.

Pub. Date : 1996 Nov

PMID : 8896573






2 Functional Relationships(s)
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1 5-Oxoprolinuria (pyroglutamic aciduria) resulting from glutathione synthetase (GSS) deficiency is an inherited autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, haemolytic anaemia and central nervous system damage. Pyrrolidonecarboxylic Acid glutathione synthetase Homo sapiens
2 5-Oxoprolinuria (pyroglutamic aciduria) resulting from glutathione synthetase (GSS) deficiency is an inherited autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, haemolytic anaemia and central nervous system damage. Pyrrolidonecarboxylic Acid glutathione synthetase Homo sapiens