glutathione synthetase deficiency (5-oxoprolinuria)

Genetics

• associated with defects in GSS gene

Clinical manifestations

• variable, from severe hemolysis & CNS dysunction to mild form with mild form with hemolytic anemia

Database

• OMIM: https://mirror.omim.org/entry/231900
• OMIM: https://mirror.omim.org/entry/266130