Prompt detection and treatment of HCys are important in preventing or reducing the symptoms associated with the disorder.
The disease can be diagnosed by determination of the plasma total homocysteine level in affected individuals or by newborn screening.
Treatment aims to prevent complications by lowering plasma homocysteine concentration, and avoidance of abnormally low methionine concentration. Some patients respond to therapy with pyridoxine (vitamin B6). The dietary management consists of a methionine restricted diet with betaine supplementation.
comida-HCys A formula is an amino acid mixture, free from methionine, supplemented with vitamins, minerals and trace elements, and provides energy from fat and carbohydrates appropriate to the different age groups.