Tags: Disease.
Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. Since the substances also accumulate in the urine the disorder can also be called citrullinuria.Two forms of citrullinemia have been described both having different signs and symptoms and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders.