What is the prevalence of Argininosuccinic Aciduria?
How many people does Argininosuccinic Aciduria affect? Does it have the same prevalence in men and women? And in the different countries?
Argininosuccinic Aciduria is a rare autosomal recessive disorder that affects the urea cycle, resulting in the accumulation of argininosuccinic acid in the body. It is estimated to have a prevalence of approximately 1 in 70,000 to 1 in 218,000 live births worldwide. This metabolic disorder primarily affects the liver and can lead to symptoms such as intellectual disability, liver dysfunction, seizures, and developmental delays. Early diagnosis and treatment are crucial to manage the condition and prevent complications. Genetic counseling and newborn screening programs play a vital role in identifying affected individuals and providing appropriate care.
Argininosuccinic Aciduria (ASA) is a rare genetic disorder that affects the urea cycle, a process responsible for removing ammonia from the body. It is an autosomal recessive disorder, meaning that both parents must carry a mutated gene for their child to be affected.
The prevalence of Argininosuccinic Aciduria is estimated to be around 1 in 70,000 to 1 in 218,000 live births worldwide. Although it is considered a rare disorder, the exact prevalence may vary across different populations and regions.
Individuals with ASA lack the enzyme argininosuccinate lyase, which leads to the accumulation of toxic levels of ammonia in the blood. This can result in a range of symptoms, including intellectual disability, seizures, liver dysfunction, and developmental delays. Early diagnosis and treatment are crucial to prevent severe complications and improve outcomes for affected individuals.
Managing ASA typically involves a low-protein diet, medications to reduce ammonia levels, and sometimes liver transplantation. Ongoing medical supervision and support from a multidisciplinary team are essential to optimize the quality of life for individuals with ASA.
