Homocistinuria debida a deficiencia de cistationina beta-sintetasa. A propósito de un caso

Homocystinuria is an inherited disorder of methionine metabolism, and has a high morbidity-mortality rate. Mutations in the cystathionine beta-synthase gene are the most common cause of homocystinuria, known as classic homocystinuria. More than 150 mutations have been described, with T191 M being the most prevalent in Spain. Neonatal identification by newborn screening may prevent severe complications, and allow normal intellectual development. A case is presented of pyridoxine non-responsive homocystinuria due to T353 mutation.