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Hipertensión arterial grave en dos pacientes con homocistinuria familiar: respuesta al tratamiento con vitamina B6, ácido fólico y enalapril

Keywords: homocystinuria, arterial hypertension, lens dislocation, stroke.

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Abstract:

homocystinuria, an autosomal recessive genetic disease, is characterized by deficiency of enzimes related to the methionine metabolism. in the present communication we present two brothers who were hospitalized due to severe high blood pressure. based on the lens dislocation, slowness in body growth, both plasmatic and urinary homocysteine levels, classic homocystinuria was diagnosed. the treatment of the metabolic disorder was b6 vitamin 500 mg/day, folic acid 5.0 mg/day and a low methionine diet. after three years of this treatment, favorable changes in their general aspect and their articular symptoms were observed. severe high blood pressure episodes have not been repeated.

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