Gamma-glutamylcysteine synthetase deficiency (230450*)

Gamma-glutamylcysteine synthetase

Biochemical profile: Aminoaciduria, glutathione deficiency

Clinical features: Hemolysis, spinocerebellar degeneration, peripheral neuropathy, myopathy

Treatment: No clear treatment; avoidance of medications that trigger hemolytic crisis in G6PD deficiency

Pyroglutamic aciduria (5-oxoprolinuria; 266130*, 231900*)

Glutathione synthetase

Biochemical profile: Elevated urinary, plasma, and cerebrospinal fluid 5-oxoproline; increased gamma-glutamylcysteine; decreased glutathione level

Clinical features: Hemolysis, ataxia, seizures, intellectual disability, spasticity, metabolic acidosis

In mild form, no evidence of neurologic damage

Treatment:

Gamma-glutamyltranspeptidase deficiency (glutathionuria; 231950*)

Gamma-glutamyltranspeptidase

Biochemical profile: Elevated plasma and urinary glutathione

Clinical features: Intellectual disability

Treatment: No specific treatment

5-Oxoprolinase deficiency (260005*)

5-Oxoprolinase

Biochemical profile: Elevated urinary 5-oxoproline

Clinical features: Probably benign

Treatment: None needed