What Are the Long-Term Cognitive Effects of Galactosemia?

Discussion Galactosemia is a disorder caused by the galactose-1-phosphate deficiency. It is an autosomal recessive disorder resulting from an abnormality of the GALT gene on chromosome 9. There is an incidence of 1:47,000 in the white population. Treatment with lactose-free diets is the mainstay. Lactose is a disaccaride composed of glucose and galactose. Neonates if untreated usually present early with hepatotoxicity (jaundice, hepatosplenomegaly, hypoglycemia), failure to thrive, emesis, hypotonia, renal tubular dysfunction, sepsis, and cataracts. Despite adequate or good compliance with diets longer term problems continue and their cause and potential amelioration still remains elusive. Longer term problems include: cognitive, social, and communication problems. Most females also develop hypergonadotroic hypogonadism and fertility problems. Patient may also have motor problems. Learning Point Cognition studies of galactosemia patients mainly have been cross-sectional and usually show an overall decrease in cognitive function relative to those without galactosemia, with some continued decrease in cognition with aging. Areas of cognition affected include IQ, memory, and executive functioning. However, there are large interindividual differences and few longitudinal studies. One study in Germany that evaluated individual patients for IQ at 3 times (means 11, 13.6 and 26 years) found that individual’s IQ basically stayed the same over time. Also there were 2 clusters of ...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news