Argininemia

Argininemia is a rare inherited disorder characterized by elevated levels of the amino acid arginine in the blood due to the deficiency of the enzyme arginase. This condition is an autosomal recessive disorder, which means both parents must carry the defective gene in order for a child to be affected.

Symptoms

The symptoms of argininemia may not become apparent until a child is a few years old. They may include:

• Developmental delay
• Spasticity
• Seizures
• Hyperactivity
• Failure to thrive
• Liver disease

Causes

Argininemia is caused by mutations in the ARG1 gene. This gene provides instructions for producing the enzyme arginase, which is responsible for the final step in the breakdown of arginine. When arginase is deficient, arginine accumulates in the blood, leading to the symptoms of argininemia.

Diagnosis

Diagnosis of argininemia is based on the symptoms, clinical examination, and confirmed by biochemical analysis of blood and urine. Genetic testing can also be used to confirm the diagnosis.

Treatment

Treatment for argininemia is aimed at reducing the levels of arginine in the blood. This is usually achieved through a low-protein diet and the use of medications such as sodium benzoate or sodium phenylbutyrate.

Prognosis

The prognosis for individuals with argininemia varies. Some individuals may have severe neurological impairment, while others may have mild or no symptoms. Early diagnosis and treatment can improve the prognosis.

See also

• Inborn errors of metabolism
• Amino acid metabolism disorders
• Urea cycle disorders

References

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