Adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency is a rare metabolic disorder that primarily affects the nervous system. This condition is characterized by a deficiency of the enzyme adenylosuccinate lyase, which is involved in the purine synthesis pathway.

Symptoms

The symptoms of adenylosuccinate lyase deficiency can vary widely, even among members of the same family. They can include developmental delay, intellectual disability, seizures, and autism spectrum disorder. Some affected individuals may also have distinctive facial features, such as a broad forehead, low-set ears, and a small chin.

Causes

Adenylosuccinate lyase deficiency is caused by mutations in the ADSL gene. This gene provides instructions for making the enzyme adenylosuccinate lyase, which is involved in the production of purines. Purines are key components of DNA, RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.

Diagnosis

Diagnosis of adenylosuccinate lyase deficiency is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests can include biochemical tests to measure the levels of certain substances in the body, genetic testing to identify mutations in the ADSL gene, and neuroimaging studies to evaluate the structure and function of the brain.

Treatment

There is currently no cure for adenylosuccinate lyase deficiency, and treatment is symptomatic and supportive. This can include medications to manage seizures, physical and occupational therapy to improve motor skills and coordination, and special education services to address developmental delays and learning disabilities.

Prognosis

The prognosis for individuals with adenylosuccinate lyase deficiency varies depending on the severity of symptoms. Some individuals may have a relatively mild course with few neurological problems, while others may experience severe developmental delay and other serious complications.

See also

• Purine metabolism
• Inborn errors of metabolism
• Genetic disorder

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