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Archivos argentinos de pediatría
versão impressa ISSN 0325-0075versão On-line ISSN 1668-3501
Resumo
MACCARI, María L; MELONI, Ana M; GARCIA CENTURION, Cecilia e VELOSO, Fabio. Severe arterial hypertension in two cases of familiar homocystinuria: response to the treatment with B6 vitamin, folic acid, and enalapril. Arch. argent. pediatr. [online]. 2007, vol.105, n.6, pp.538-542. ISSN 0325-0075.
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.
Palavras-chave : Homocystinuria; Arterial hypertension; Lens dislocation; Stroke.