Arginase deficiency diseases, also known as arginase deficiencies, are a group of inherited metabolic disorders characterized by the inadequate production or function of the enzyme arginase. Arginase is responsible for the final step in the urea cycle, a process that converts toxic ammonia into urea, which can be safely excreted by the kidneys.
In individuals with arginase deficiency diseases, the deficiency or dysfunction of arginase leads to the accumulation of toxic levels of ammonia in the bloodstream. This can result in severe neurological symptoms, such as intellectual disability, seizures, developmental delay, and behavioral problems. Additionally, individuals may experience growth abnormalities, spasticity, poor muscle coordination, and abnormally high levels of arginine in the blood.
Arginase deficiency diseases can be classified into two main types: arginase deficiency type I and arginase deficiency type II. Type I is the more severe form, often causing symptoms soon after birth. Individuals with type I arginase deficiency typically experience life-threatening complications, including respiratory distress, poor feeding, and increased susceptibility to infections. In contrast, type II arginase deficiency presents with milder symptoms and a later onset, often during childhood or adolescence.
Treatment for arginase deficiency diseases involves dietary modifications, such as restriction of arginine intake and supplementation with essential amino acids. Medications may also be used to help reduce ammonia levels in the blood. Early diagnosis and intervention are crucial in managing the symptoms and preventing complications associated with arginase deficiency diseases. Ongoing medical care and regular monitoring by a team of specialists are essential to optimize the individual's health and well-being.
