THIRD EDITION
Factsheet
Condition:
Galactosemia
Inheritance:
Autosomal recessive
Genetic Etiology:
Mutation in GALT, encoding galactose-1-phosphate uridyl transferase.
Frequency:
Approximately 1/30,000
Clinical features:
Galactosemia presents in infancy with failure to thrive, liver failure, bleeding, and E. coli sepsis. Severe mental retardation ensues if treatment is not instituted. Galactosemia is included in newborn screening in most areas. Longterm complications, even in setting of dietary treatment, can include cognitive impairment, cataracts, and premature ovarian failure.
Management:
Dietary restriction of galactose.
Genetic counseling:
Based on autosomal recessive inheritance; molecular genetic testing is available.