Homocystinuria due to 5,10‐methylenetetra‐hydrofolate reductase deficiency revealed by stroke in adult siblings

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.