What is the treatment for galactosemia?

Condition analysis:
Treatment is based on the 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, (NutramigenR, PregestimilR). This diet should be strictly followed, and continued for years, and possibly for life. The red blood cell levels of galactose or its metabolites (galactose-1-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 subsequent pregnancies. 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.

Instructions:
Prevention of Galactosemia
General: Because galactosemia is an inherited condition, there is currently no known way to prevent the disease. However, a number of options are available for parents with family histories of galactosemia.

Genetic testing and counseling: Individuals who have galactosemia may meet with a genetic counselor to discuss the risks of having children with the disease. Individuals with a family history of galactosemia may meet with a genetic counselor to determine whether they carry the defective GALT, GALE, or GALK1 genes. Carriers can be determined through detailed family histories or genetic testing.

Known carriers of galactosemia may undergo genetic counseling before they conceive a child. A genetic counselor can explain the options and associated risks of various tests, including pre-implantation genetic diagnosis (PGD), amniocentesis, and chorionic villus sampling (CVS).

Pre-implantation genetic diagnosis (PGD) may be used with in vitro (artificial) fertilization. In PGD, embryos are tested for the defective GALT, GALE, or GALK1 genes, and only the unaffected embryos are implanted. Because galactosemia can be detected in a fetus, parents may choose whether to continue the pregnancy. A genetic counselor can assist parents with these difficult decisions.