hyperargininemia

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. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high; the nervous system is especially sensitive to the effects of excess ammonia.

The presentation of argininemia, in those that are affected, is consistent with the following:

Mutations in the ARG1 gene cause argininemia, which belongs to a class ...