A urea cycle disorder (UCD) is an inherited disease that affects how the body removes the waste that is made from breaking down protein. Everyone needs protein, which is found in foods like dairy products, meat and fish. When a person eats food that contains protein, the body breaks it down into amino acids (the building blocks of protein that are used by the body for growth and tissue repair) and uses only what it needs. It changes the rest into nitrogen, which must then be removed by the body.

Los defectos del ciclo de la urea (DCU) son errores innatos de la desintoxicación del amonio/síntesis de arginina. La gravedad de los DCU es muy variable dependiendo de la mutación específica involucrada en correlación con la función enzimática residual. La incidencia exacta de los DCU en Argentina es desconocida debido a la ausencia de pesquisa neonatal o registro nacional. La mayoría de los pacientes se detectan sintomáticamente, aumentando la morbi/mortalidad.