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.
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College of Health Solutions, Arizona State University, Tempe, AZ, United States.
Speech problems affect about 66% of children with classic galactosemia (CG), but little is known about early motor and sensory motor development in this at-risk population (Rubio-Gozalbo et al., 2019). Research has been focused on speech and language development leaving a paucity of data on motor and sensory differences.
View Article and Find Full Text PDFHealth and well-being of maturing adults with classic galactosemia.
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