Arginase Deficiency/Argininemia synonyms

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

Individuals with Arginase Deficiency experience a buildup of arginine and ammonia in their blood, leading to a variety of symptoms. These symptoms can vary in severity and may include intellectual disability, developmental delay, seizures, spasticity, and progressive neurological deterioration.

Arginase Deficiency is an autosomal recessive disorder, meaning that both parents must carry a copy of the mutated gene for their child to be affected. The condition is typically diagnosed in infancy or early childhood through blood tests that measure arginase activity and levels of arginine and ammonia.

Treatment for Arginase Deficiency focuses on managing symptoms and preventing complications. This may involve a low-protein diet, which restricts the intake of arginine and other amino acids, as well as the use of medications to control ammonia levels. Regular monitoring and follow-up with a metabolic specialist are essential for managing the condition effectively.

Research into potential therapies for Arginase Deficiency is ongoing, including gene therapy and enzyme replacement therapy. These approaches aim to restore or supplement the deficient arginase enzyme, potentially improving outcomes for individuals with this condition.

Overall, Arginase Deficiency, or Argininemia, is a rare genetic disorder that affects the urea cycle and leads to the accumulation of arginine and ammonia in the body. Early diagnosis, appropriate management, and ongoing research efforts are crucial in improving the quality of life for individuals living with this condition.