Complete Argininosuccinic Acid Synthetase Deficiency Disease, also known as ASL deficiency, is a rare genetic disorder that affects the body's ability to produce an enzyme called argininosuccinic acid synthetase (ASL). ASL is involved in a crucial step of the urea cycle, which is responsible for the breakdown and removal of nitrogenous waste from the body.
Individuals with complete ASL deficiency are unable to effectively metabolize nitrogen, resulting in the accumulation of toxic levels of ammonia in the blood. This can lead to a variety of symptoms and complications, including neurological problems, developmental delays, intellectual disability, seizures, liver damage, and even life-threatening episodes of hyperammonemia.
The condition is typically diagnosed in early infancy, as affected newborns often display symptoms such as poor feeding, vomiting, lethargy, and failure to thrive. Blood tests can confirm the presence of increased ammonia levels, while genetic testing can identify the specific ASL gene mutation.
The treatment of complete ASL deficiency focuses on managing the symptoms and preventing the buildup of ammonia in the blood. This involves a rigorous low-protein diet, supplemented with special medical foods and essential nutrients. Medications such as ammonia scavengers and nitrogen-lowering drugs may also be prescribed. In severe cases, liver transplantation may be necessary to restore normal metabolic function.
As Complete Argininosuccinic Acid Synthetase Deficiency Disease is a rare and complex disorder, a multidisciplinary approach is often required, involving various medical specialists, dietary experts, and genetic counselors to provide comprehensive care and support for individuals and families affected by the condition.
