inherited glutathione synthetase deficiency
Glutathione synthetase deficiency is characterized 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.
MONDO:0024626
defective phagocytic cell engulfment
is_a
MONDO:0040566
inherited glutathione metabolism disease
is_a
5-oxoprolinuria
exact
GSSD
exact
glutathione synthetase deficiency
exact
inborn error of glutathione synthase activity
exact
inborn glutathione synthase activity disorder
exact
inherited glutathione synthetase deficiency
exact
oxoprolinase deficiency
related
pyroglutamic aciduria
exact
pyroglutamicaciduria
exact
rare inborn error of glutathione synthase activity
exact
SPAC3F10.04