What is Arginase Deficiency/Argininemia

Arginase Deficiency, also known as Argininemia, is a rare genetic disorder that affects the urea cycle, a process in the liver that helps remove toxic ammonia from the body. This condition is caused by a deficiency of the enzyme arginase, which is responsible for breaking down the amino acid arginine.

Arginase Deficiency leads to the accumulation of arginine and ammonia in the blood, resulting in various symptoms such as intellectual disability, developmental delays, seizures, spasticity, and growth problems. These symptoms can vary in severity among affected individuals.

Diagnosis of Arginase Deficiency is typically made through blood tests that measure the levels of arginine and ammonia. Treatment involves a low-protein diet, which restricts the intake of arginine and other amino acids, as well as medications to manage symptoms and prevent complications.

Early detection and intervention are crucial in managing Arginase Deficiency. Genetic counseling is recommended for families with a history of the condition, as it is inherited in an autosomal recessive manner.