[Galactosemia of early diagnosis with psychomotor retardation].
The case history of a baby girl suffering galactosemia is described. This was due to a deficit of galactose-1-phosphate uridyl transferase, with symptoms during the neonatal period consisting in weight loss, vomiting, jaundice and bleeding syndrome. From the twelfth day of life, a strict diet without galactose was imposed and controlled by measuring galactose and Hb A1 in serum. The clinical evolution was satisfactory and a liver biopsy, which was taken after seven months of live, shows minimal histological changes. At present, however, the girl is now two years old and shows a marked backwardness in psychomotor functions. The etiologic treatment which consists in the exclusion of galactose from the diet, even when started at a very early stage, does not prevent the aparition of sequelae.
D005260:Female; D005693:Galactosemias / Q000150:complications* / Q000175:diagnosis; D005695:Galactosephosphates / Q000172:deficiency; D006801:Humans; D007231:Infant, Newborn; D011596:Psychomotor Disorders / Q000209:etiology*; D013997:Time Factors
D005695:Galactosephosphates; C029973:galactose-1-phosphate
Galactosemia de diagnóstico precoz con retraso psicomotor.