Description - Classical galactosemia is an autosomal recessive disorder of carbohydrate metabolism, which is caused by an almost total deficiency of the enzyme galactose-1-phosphate uridyl transferase (GAL-1-PUT). When present, this enzyme converts galactose, found in milk and most non-soy commercial infant formulas, to glucose. Transferase deficiency will result in build up of galactose in the body, which causes rapid development of clinical symptoms following lactose ingestion. Identification of galactosemia must be rapid since death may result in a matter of days if the disorder is untreated.
Clinical Features - Although the infant may be normal at birth, symptoms develop in a few days to two weeks after initiating milk feedings. The early clinical features include neonatal hypoglycemia, liver damage, jaundice, failure to thrive, lethargy, vomiting, diarrhea, and sepsis. Without rapid diagnosis, the disease may result in death, frequently associated with E. coli septicemia. If the infant survives the neonatal period and is not tested by six months, motor retardation, hepatomegaly and cataracts can occur in addition to mental retardation, growth failure and cirrhosis.
Treatment - When the abnormal screening result is known, the primary care physician should assess the infant immediately and place on a soy formula (no breast feeding). Consultation with a metabolic specialist is strongly recommended. Identification in the newborn period and rigid restriction of dietary galactose is effective in reducing the clinical severity of the disease. (Total elimination of dietary galactose does not ensure full normalcy.) The galactose-free diet must be followed for life with close specialized medical and nutritional supervision, genetic counseling, education, evaluation and referral for learning disabilities.