Argininosuccinic acidemia

Argininosuccinic acidemia (ASA) is a rare, genetic disorder that affects the body's ability to process protein. It is a type of urea cycle disorder, which means that the body cannot effectively remove ammonia from the bloodstream. This condition is inherited in an autosomal recessive manner.

Symptoms

The symptoms of argininosuccinic acidemia typically become apparent in the first few days of life. They may include lethargy, poor feeding, vomiting, seizures, and coma. If untreated, the disorder can lead to severe brain damage and death.

Causes

Argininosuccinic acidemia is caused by mutations in the ASL gene, which provides instructions for making an enzyme called argininosuccinate lyase. This enzyme is necessary for the final step in the urea cycle, which is a series of reactions that occurs in liver cells. The urea cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.

Diagnosis

Diagnosis of argininosuccinic acidemia is typically made through newborn screening tests, which can detect elevated levels of argininosuccinic acid in the blood. Additional testing, such as genetic testing, may be used to confirm the diagnosis.

Treatment

Treatment for argininosuccinic acidemia typically involves a low-protein diet and medications to help remove ammonia from the body. In some cases, liver transplant may be considered.

Prognosis

The prognosis for individuals with argininosuccinic acidemia varies. With early diagnosis and appropriate treatment, many individuals can lead relatively normal lives. However, some may experience significant neurological and cognitive impairment.

See also

• Urea cycle
• Inborn errors of metabolism
• Genetic disorder

NIH genetic and rare disease info

• NIH info on Argininosuccinic acidemia

Argininosuccinic acidemia is a rare disease.

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