Galactosemia e intolerancia a proteínas vacunas: estudio clínico-bioquímico y anatómico

espanolSe realiza estudio clinico-bioquimico y anatomico de un caso de galactosemia e intolerancia a proteinas vacunas en un lactante de un mes de edad. Se confirma el diagnostico con la medicion del deficit enzimatico (Gal-1-P-Uridiltransferasa), segun tecnica de Anderson, Kalckar e Isselbacher. El estudio familiar se efectua con prueba de sobrecarga y determinacion enzimatica. El analisis de la asociacion galactosemia-intolerancia a proteinas vacunas resalta el interes del caso, con repercusiones evolutivas y terapeuticas. EnglishThe clinical, biochemical and anatomical studies of one case of galactosemia with cow's milk intolerance in a one month old infant are reported. Diagnosis was ascertained measuring the enzyme (Gal-1-P-Uridyl-transferase) deficiency with the methods of Anderson, Kalckar and Isselbacher. Overload and enzymatic studies were also carried out in relatives. The interest of this association of galactosemia with cow's milk intolerance, and its clinical and therapeutic implications are pointed out in the discussion.