Citrullinemia

Citrullinemia is an inherited metabolic condition classed as a urea cycle disorder, passed on in an autosomal recessive pattern. The urea cycle is a sequence of chemical reactions that takes place in the liver and converts toxic ammonia, produced when amino acids are broken down, into urea, which the kidneys then excrete. When that cycle fails, ammonia and other toxic substances accumulate in the blood. Two forms of citrullinemia have been described. They differ in their signs, symptoms and management, and they are caused by mutations in different genes. The condition sits among the genetic diseases known as urea cycle disorders, and it is recorded here as a record of what is described about it, not as medical advice.