Tirosinemia tipo I: dos formas atípicas de presentación clínica

摘要: Resumen Se exponen dos casos de tirosinemia tipo I con presentacion atipica. El primero se inicia crisis convulsivas secundarias a hipoglucemias graves. En el estudio metabolico para diag-nostico las detecta un perfil tipico ti-rosinemia en sangre y orina. segundo caso fue hallazgo casual contexto ingreso por bronquitis. Ambos siguen tratamiento 2-(2-nitro-4-trifluorome-tilbenzoil)-1-3-ciclohexanediona (NTBC) combinacion dieta bajo contenido proteinas naturales suplementada formula especial sin tirosina ni fenilalanina. la actua-lidad no presentan alteraciones clinico-analiticas compli-caciones. Palabras clave Tirosinemia, tirosina, NTBC Abstract Title: Tyrosinemia type I: two atypical forms of clinical presentationThe authors describe cases tyrosinemia with aty-pical presentation. The first patient presented refrac-tory seizures secondary to hypoglycemic episodes. metabolic study for the differential diagnosis hypoglycemia, revealed pattern suggestive I. In second patient, presence was detected during hospital stay owing bronchitis. both cases, treatment 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione combined low protein diet supplemented tyrosine- and phen-ylalanine-free prescribed. There have been com-plications follow-up period in either case and, at present time, analytical findings are normal.