Carnosinase deficiency

Carnosinase deficiency is a rare metabolic disorder characterized by an absence or deficiency of the enzyme carnosinase. Carnosinase is primarily responsible for the hydrolysis of carnosine, a dipeptide molecule that plays a crucial role in muscle function and neurological development.

Symptoms and Signs

The symptoms of carnosinase deficiency can vary widely among affected individuals. Common symptoms include intellectual disability, seizures, and delayed motor development. Some individuals may also exhibit hypotonia (low muscle tone), hyperactivity, and behavioral problems.

Causes

Carnosinase deficiency is caused by mutations in the CNDP1 gene, which provides instructions for producing the carnosinase enzyme. This enzyme is found in the brain and other tissues throughout the body, where it breaks down carnosine. When the CNDP1 gene is mutated, the carnosinase enzyme may be produced in reduced amounts or may not function properly, leading to an accumulation of carnosine in the body's tissues.

Diagnosis

Diagnosis of carnosinase deficiency is typically made through a combination of clinical examination, patient history, and laboratory testing. Laboratory tests may include blood tests to measure levels of carnosinase and carnosine in the body, as well as genetic testing to identify mutations in the CNDP1 gene.

Treatment

There is currently no cure for carnosinase deficiency, and treatment is primarily symptomatic. Management strategies may include physical therapy to improve motor skills, anticonvulsant medications to control seizures, and educational interventions to address intellectual disability.

Prognosis

The prognosis for individuals with carnosinase deficiency varies depending on the severity of symptoms and the individual's overall health. With appropriate management, many individuals with this condition can lead productive lives.

See Also

• Metabolic disorders
• Enzyme deficiency
• CNDP1 gene
• Carnosine

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