Arginase deficiency disease, also known as arginase 1 deficiency (ARG1-D), is a rare genetic disorder that affects the urea cycle, a biochemical pathway responsible for removing toxic ammonia from the body. This autosomal recessive disorder is caused by mutations in the ARG1 gene, which leads to a deficiency in the enzyme arginase 1, responsible for breaking down the amino acid arginine into ornithine and urea.
The lack of functional arginase 1 enzyme disrupts the urea cycle, causing ammonia to accumulate in the blood and tissues. This buildup of ammonia is toxic to the brain and can lead to neurological problems, intellectual disability, seizures, developmental delays, and other symptoms in affected individuals.
Arginase deficiency disease typically presents in infancy or early childhood with symptoms such as poor growth, spasticity, irritability, and feeding difficulties. Without proper diagnosis and treatment, the disease can progress, potentially resulting in life-threatening episodes of hyperammonemia.
Management of arginase deficiency disease usually involves a low-protein diet with restricted arginine intake to minimize the production of ammonia. Some patients may also require supplements of essential amino acids and nitrogen-scavenging drugs to help remove excess ammonia. Regular monitoring of ammonia levels and neurological development is crucial to ensure timely intervention and prevent complications.
Early diagnosis and proper management can greatly improve the quality of life for individuals with arginase deficiency disease, allowing for better growth and neurological outcomes. Ongoing research and advancements in genetic therapies hold promise for potential future treatments.
