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. [2][6]

Aug 8, 2023 · Argininemia is an autosomal recessive disorder causing hyperammonemia secondary to arginine accumulation. It is a disorder first noticed in children with growth reduction, slowing cognition, and milestone development.

Argininemia affects as many as one in every 300,000 babies born in the United States. Your baby’s doctor may ask you if your baby is showing any of the signs of ARG (see Early Signs below). If your baby has certain signs, your baby’s doctor …

Argininemia is a rare genetic disorder. People with argininemia have problems with an enzyme called arginase I as it is either missing, deficient, or damaged. The arginase I enzyme has an important job as part of the urea cycle and you may hear argininemia referred to …

Apr 11, 2023 · Arginase-1 deficiency is a rare inherited disorder characterized by complete or partial lack of the enzyme arginase in the liver and red blood cells. Arginase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a …

ArgD is due to deficiency of arginase 1, encoded by the ARG1 gene. Arginase 1 is one of six enzymes of the urea cycle that detoxify ammonia. Its dysfunction results in hyperammonemia, especially during catabolic episodes, and also to hyperargininemia.

Arginase deficiency is an inherited (genetic) condition that prevents your baby’s body from breaking down a substance called arginine in the blood. Arginine is an amino acid, one of the building blocks that make up proteins. Arginase is the name of an enzyme in your body that helps your body break down arginine.

Oct 21, 2004 · Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal.

Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually 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.

Dec 9, 2022 · Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle, the hydrolysis of arginine to urea and ornithine. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis.