Argininemia is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood.

This cycle processes excess nitrogen, generated when protein is used by the body, making urea that is excreted via the kidneys.

consequently, urea cannot be produced and excess nitrogen accumulates in the blood in the form of ammonia.

Ammonia and arginine are thought to cause neurological problems and other symptoms of arginase deficiency.

[8] One can look for the following indicators as to the presence of the condition:[2] The treatment for people with argininemia includes:[3] Pegzilarginase (Loargys) was approved for medical use in the European Union in December 2023.