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All Diseases > Arginase deficiency
Arginase deficiency
Alternative Names: Hyperargininemia
Disease Category: Urea Cycle Disorders
An inherited, metabolic, urea cycle disorder characterized by hyperammonemia (high blood ammonia levels) due to deficiency or absence of an enzyme needed to convert the nitrogen in arginine (a protein building block) into urea (a waste product). Symptoms manifest between the ages of 1 and 3, including feeding and growth problems, spasticity (muscle rigidity), hyperreflexia (increased reflexes), vomiting, seizures, developmental delay and regression, and intellectual disability.