Arginase deficiency

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Disease Overview

Arginase deficiency is an inherited metabolic disease in which the body is unable to process arginine (a building block of protein).[11244][5471] It belongs to a group of disorders known as urea cycle disorders. These occur when the body’s process for removing ammonia is disrupted, which can cause ammonia levels in the blood to rise (hyperammonemia). In most cases, symptoms appear between the ages of one and three years. Symptoms may include feeding problems, vomiting, poor growth, seizures, and stiff muscles with increased reflexes (spasticity). People with arginase
deficiency may also have developmental delay, loss of developmental milestones, and intellectual disability.[5470][5471][11244] Arginase deficiency is caused by mutations in the ARG1 gene and is inherited in an autosomal recessive manner.[5471][5470] Treatment is focused on lowering arginine levels and preventing hyperammonemia. People with arginase deficiency are generally placed on a very low-protein diet with the help of a registered metabolic dietitian. They may be prescribed certain medications called nitrogen-scavenging drugs.[5470][11244]


Synonyms

  • ARG1 deficiency
  • Hyperargininemia
  • Argininemia

For more information, visit GARD.

National Organization for Rare Disorders