Galactosemia is a rare hereditary disease leading not only to cirrhosis in infants, but more seriously, to early devastating illness if not diagnosed quickly. This disease is caused by elevated levels of galactose (a sugar in milk) in the blood resulting from a deficiency of the liver enzyme required for its metabolism (breakdown). To have the disease, a child must inherit the tendency from both parents. The incidence of the disease is approximately 1:20,000 live births. For each pregnancy, in such a family, there is a 1 in 4 chance a baby will be born with the deficiency. Because of the potential disastrous side effects of late diagnosis, many states have mandatory neonatal screening programs for galactosemia.
The disease usually appears in the first days of life following the ingestion of breast milk or formula. Vomiting, liver enlargement, and jaundice are often the earliest signs of the disease, but bacterial infections (often severe), irritability, failure to gain weight, and diarrhea may also occur. If unrecognized in the newborn period, the disease may produce liver, brain, eye and kidney damage.
Blood tests can make the diagnosis. The disease is detected by measuring the level of enzyme in red blood cells, white blood cells or liver. Affected patients have no enzyme activity; carriers (parents) have intermediate enzyme activity (about 1/2 the normal level). A galactose tolerance test should never be done, as it may be harmful. Affected infants who ingest galactose will excrete it in large quantities in their urine where it can also be detected. If the infant is vomiting, and not taking milk, the test can be negative. If the disease is suspected, the diagnosis should be confirmed by blood testing.
Treatment is based on elimination of galactose from the diet. This may be done in the early neonatal period by stopping breast feeding and by the administration of diets which contain no lactose or galactose, (Nutramigen, Pregestimil). This diet should be compulsively followed, and continued for years, and possibly for life. The red blood cell levels of galactose or its metabolites (Galactose-l-phosphate) may be used as a monitor to gauge the adherence to the diet and restriction of galactose. It is also recommended that mothers of affected infants be placed on a galactose-free diet during the subsequent pregnancy. This may somewhat modify symptoms present at birth. With early therapy, any liver damage which occurred in the first few days of life will nearly completely heal. Galactosemia should be considered in any jaundiced infant because of beneficial effects of early dietary restriction.
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