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Arginase Deficiency Disorder

What is arginase deficiency disorder?

Arginase deficiency disorder is a rare inherited condition characterized by an insufficient level or complete lack of an important enzyme known as arginase. This enzyme is necessary for proper metabolism.  The lack of arginase leads to an accumulation of ammonia in the blood, which is a byproduct of the body’s metabolism. This disorder is usually identified at birth due to infant screening.  It is estimated that arginase deficiency occurs in 1 in 300,000 to 1 in 1,000,000 births.

What are the symptoms of arginase deficiency disorder?

The symptoms of arginase deficiency disorder are almost always apparent by the age of 3. If untreated the symptoms can become debilitating and life threatening. These symptoms include:
  • Stiffness in the legs
  • Seizures
  • Tremors
  • Poor coordination
  • Developmental delays
  • Intellectual impairment
  • Lack of appetite
  • Loss of bowel and bladder function
  • Coma

What causes arginase deficiency disorder?

Arginase deficiency disorder is cause by an inherited gene defect.  This disorder must be inherited by both the mother and the father.  A person with the genetic defect and not the disorder is known as a carrier. The defective inherited gene leads to insufficient or lack of an enzyme known as arginase which is necessary for proper metabolism in the body. The lack of this enzyme leads to a buildup of nitrogen, ammonia and arginine in the blood, brain and spinal fluid due to inadequate elimination. The symptoms of this disorder are cause by these substances.

Are there treatment options for arginase deficiency disorder?

The treatment of arginase deficiency disorder is directed at the elimination of ammonia and arginine from the blood as well as the prevention of the buildup.  Treatment options include:
  • Dialysis for dangerously high levels of ammonia
  • Medications to aid in the excretion of ammonia from the body
  • Dietary restrictions of protein
  • Medications for seizures

Where can I find more information about arginase deficiency disorder?

Arginase Deficiency Disorder Articles