Galactosemia

Galactosemia is a rare heritable disease leading not lone to cirrhosis in infants, but, more seriously, to hasty, devastating illness save diagnosed quickly. This disease is cause by elevated levels of galactose (a sugar contained by milk) in the blood resulting from a defect of the liver enzyme required for its metabolism (breakdown).

To have the disease, a child must inherit the development from both parents. The incidence of the disease is approximately 1:20,000 live births. For each pregna ncy, contained by such a family, at hand is a 1 in 4 destiny a baby will be born beside the deficiency. Because of the potentially disastrous effects of postponed diagnosis man y states have mandatory neonatal screening programs for galactosemia.

The disease usually appears in the first few days of life span following the ingestion of breast milk or formula. Vomiting, liver enlargement, and jaundice are normally the earliest signs of the disease, but bacterial infections (often severe), irritability, failure to gain weightiness, and diarrhea may also occur. If unrecogni zed within the newborn period, the disease may produce liver, brain, eye and kidney blight.

Blood tests can construct the diagnosis. The disease is detected by measuring the horizontal of enzyme in red blood cell, white blood cells or liver. Affected patients own no enzyme activity; carrier (parents) have intermediate enzyme movement (about 1/2 the normal level). A galactose tolerance theory test should never be done, as it may be harmful. Affected infants who ingest galactose will excrete it in generous quantities surrounded by their urine where it can also be detected. If the infant is vomiting, and not taking milk, the question paper can be negative. If the disease is suspected, the diagnosis should be confirmed by blood conducting tests.

Treatment is based on closing down of galactose from the diet. This may be done in the rash neonatal period by stopping breast feed and by the administration of diets which contain no lactose or galactose, ([Nutramigen.sup. R], [Pregestimil.sup.R]). This diet should be compulsively followed, and continued for years, and possibly for time. The red blood cell levels of galactose or its metabolites (Galactose-1-phosphate) may be used as a monitor to determine the adherence to the d iet 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 impulsive therapy, any liver destroy which occurred within the first few days of life will nearly completely make well.

Galactosemia should be considered in any jaundiced infant because of beneficial effects of hasty dietary restriction.