arginase deficiency
Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
MONDO:0800153
urea cycle disorder or inherited hyperammonemia
is_a
arginase deficiency
exact
argininemia
exact
hyperargininemia
exact
SPBP26C9.02c SPBC428.05c SPAC3H1.07