Your newborn vomits after every feed. You are an informed parent and know that breast milk is best for your baby. You never gave anything else to your baby, and you are sure that there is no chance of infection. You have been ignoring the vomiting for the last few times, thinking that the baby is still adapting to breast milk. You should learn if breast milk is indeed the best for your baby.
Galactosemia is a rare hereditary disorder of galactose metabolism, i.e., it involves aberrant chemical reactions involved in the processing of galactose. Galactose is a simple sugar mainly present in milk and milk products, where it forms a part of another large sugar called lactose. Inefficient metabolism is caused by the absence of enzymes that act as catalysts for the chemical processing of galactose. The body is therefore unable to utilize galactose for energy.
The risk of galactosemia is seen in children born to parents who are carriers of the defective genes. Carriers harbor the defective gene without having the florid disease but can pass it on to their offspring. Galactosemia follows an inheritance pattern of genetically recessive traits. In this trait, the faulty set of genes is the result of contributions from both parents. In every conception, with both parents being carriers of the gene, there is a 25% risk of the offspring getting the disease. There is, however, a 50% risk that the offspring will become carriers of the gene.
Galactosemia is a genetic disorder that is inherited in the family, causing a deficiency of enzymes that are involved in the metabolism of galactose. The child inherits a defective gene for the production of one of the enzymes involved in the process of galactose utilization. There are three types of galactosemia caused by deficiency of three different enzymes. The commonest and most severe form is type I galactosemia, also called classic galactosemia, which is caused by a deficiency of the enzyme galactose-1 phosphate uridyl transferase. Type II is caused by a deficiency of galactokinase, and type III by a deficiency of galactose epimerase.
Babies with galactosemia may have no symptoms at birth but may develop them in the first few days of life. Symptoms develop after these babies have been fed milk or formula foods that contain lactose. Sufficient amounts of galactose accumulate in the blood due to deficient metabolism and the utilization of sugar. High levels of galactose can then lead to vomiting, poor feeding, weight loss, and irritability. The baby then develops yellowing of the eyes and skin, called jaundice or convulsion.
Galactosemia can affect the liver, which is the metabolic factory of the body. The liver may develop cirrhosis, wherein the liver tissue is destroyed, replaced by scars, and hence irreversibly damaged. There may be a loss of transparency of the lens in the eyes, which leads to opacities called cataracts. This can hamper or destroy vision. There may be difficulties with speech as the child grows. Body movements may be uncoordinated, spontaneous, or uncontrolled. The child is at risk for severe infections with bacteria like E. coli. The mental functions are affected, leading to retardation. Other risks are those of kidney failure and stunted physical growth. In girls, it can affect the gonads called ovaries and interfere with egg production, leading to fertility problems in the future. The most severely affected children may fail to survive the consequences. Galactosemia, thus, may be fatal.
Newborn babies are screened in the first week of life for galactosemia by obtaining blood from a prick made in the heel. The blood is then tested for the activity of enzymes. This activity is measured in the red blood cells. Blood may be cultured to isolate and grow E. coli in laboratory conditions. Urine may test positive for ketones, which are specific chemical substances present in urine when the body uses sources other than sugars for energy. Ketones are a byproduct of metabolism. These are detected by specific chemical tests in the laboratory. The blood may also be tested for sugar, and this may be normal or low in any baby being fed breast or formula milk.
The treatment for galactosemia is to restrict milk and milk products. Not only breast milk but also dry milk and animal milk should be restricted. Milk products like butter, yogurt, buttermilk, whey, curds, and cheese should also be avoided. Lactose-free feeding formulas can be used. Soy and protein-containing foods can be used in the diet.
Children with galactosemia need medical care, and the family needs education on diet and feeding habits. The best prevention lies in refraining from galactose- or milk-containing foods. Before buying any baby or child foods, the labels should be read carefully to check the ingredients. Any medicines that contain fillers containing galactose should be avoided. The pharmacist can be asked to provide information on this. Couples who are carriers, or if there is another affected person in the family, should go in for prenatal testing and genetic counseling to enable them to plan and make decisions for the child to be born.
Galactosemia has a genetic cause; therefore, little can be done to prevent or cure it. However, if diagnosed early, it is manageable. Avoiding milk and milk products can help prevent the complications of galactosemia and the life of the affected baby. Many alternative feeding formulas are now available for such children, and their diet needs special planning.