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Selective screening for hyperhomocysteinemia in pediatric patients.

Hyperhomocysteinemia is a common condition with genetic and environmental causes (1), and associated, especially in its severe form, with risk of premature atherosclerosis and thrombosis (2). Testing for hyperhomocysteinemia in children may be useful for investigation of patients with clinical features of homocystinuria (2), and for the assessment of nutritional status (3). Moreover, the investigation of causes of mild hyperhomocysteinemia, such as diabetes (1) or renal failure (4), may clarify the etiology of this abnormality. The possibility of easily correcting hyperhomocysteinemia by diet suggests potential utility of screening within some populations (5).

Screening for hyperhomocysteinemia in children has rarely been reported. In infants, total homocysteine (tHcy) measurement was reported only in a group on macrobiotic diets (6) and, in children, in a group with leukemia (7). Recently, a group of children with premature cardiovascular death in their male relatives was studied and the modest increase of plasma tHcy was partly attributed to genetic factors (8).

Our aim was to screen for hyperhomocysteinemia in children at risk, owing to genetic or environmental causes, (a) to discover individual patients with primary hyperhomocysteinemia and (b) to compare tHcy concentrations of certain groups of children at risk with those of age-matched reference values.

Screening was performed in the following …