Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings.

Visy, J M; Le Coz, P; Chadefaux, B; Fressinaud, C; Woimant, F; Marquet, J; Zittoun, J; Visy, J et al. · Neurology · 1991

case_series · Level IV

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Abstract

Three patients from a single family of six siblings had homocystinemia and homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency and had severe recurrent strokes in adult life. Two of the patients died 1 year after clinical onset.

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