[Total plasma homocysteine levels. Relationship with plasmatic folic acid levels and 677C T polymorphism of 5,10-methylenetetrahydrofolate reductase].

Background: Moderately increased plasma homocysteine (Hcy) in children has been associated with stroke and venous thrombosis and with a parental history of cardiovascular disease (CVD). Evaluation of Hcy concentrations during childhood and study of the factors determining its concentrations could play an important role in the primary prevention of CVD. Objective To detect cases of hyperhomocystinemia and to examine the association between Hcy levels and plasma folic acid levels and 677C T polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR).

Pilot screening programme for cystinuria in the Valencian community.

Cystinuria is an autosomal recessive disorder of the kidneys and small intestine, affecting a luminal transport mechanism shared by cystine, ornithine, arginine and lysine. When cystine exceeds its solubility at low pH, the risk of stone formation increases. The data reported in the literature show a variation for the incidence of cystinuria, from 1 in 600 to 1 in 17,000, depending on the definition of cystinuria and the method used for screening the population.