Galactosemia: Treatment, Procedure, Cost and Side Effects

Galactosemia, an inborn error of metabolism can be called in other terms as Galactose-1-Phosphate Uridyl Transferase Deficiency, Transferase Deficiency Galactose and GALT Deficiency.

Galactosemia is a rare genetic disease (autosomal recessive) of carbohydrate metabolism. In this disease, an enzyme which is needed to metabolize galactose is deficient or absent. This typically develops shortly after birth and is found to affect children most. The body is unable to convert galactose (a sugar contained in milk, including human mother's milk) to glucose (a different type of sugar due to the deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT).

Galactosemia can be subdivided into four categories- type 1, or classic and clinical variant galactosemia, type 2, or galactokinase deficiency, type 3, or epimerase deficiency and fourth, Duarte variant galactosemia.

After birth, infants with galactosemia appear normal and symptoms of galactosemia start to develop several days or weeks after birth. The infant starts to lose his or her appetite (anorexia) and starts to vomit excessively. Skin starts to turn yellow with growth of mucous membranes, and whites of the eyes, indicating jaundice. The liver starts to enlarge called hepatomegaly and causes liver damage. Appearance of amino acids and protein in the urine, growth failure, and, ultimately, accumulation of fluid in the abdominal cavity (ascites) with abdominal swelling (edema) may also occur. Diarrhea, irritability, lethargy and a bacterial infection may also be considered as early signs of galactosemia. If left untreated at an early stage, children show arrested physical and mental development and are particularly susceptible to cataracts.

Treatment for galactosemia depends on the type varieties of the disease. The only treatment for classic galactosemia is to eliminate lactose and galactose from the diet. People with this condition must avoid consuming milk, products that contain milk (including dry milk), and other foods that contain galactose, for their entire lifetime. As an alternative, infants can be fed soy formula, any other lactose-free formula or meat-based formula or nutramigen (a protein hydrolysate formula). Calcium supplements are also recommended for children with galactosemia.

Galactosemia is usually diagnosed though tests that are done as part of newborn screening programs. In order to diagnose galactosemia, blood test and urine test are done. A blood test report, in case of galactosemia, will detect high levels of galactose and low levels of enzyme activity. Classic galactosemia and clinical variant galactosemia are diagnosed when galactose-1-phosphate is elevated in red blood cells and GALT enzyme activity is reduced. Blood tests are also done in order to detect bacterial infection (E coli sepsis), and other enzyme activities. Urine tests show the amount of Ketones present in the urine. Prenatal diagnosis is done by directly measuring the enzyme galactose-1-phosphate uridyl transferase.

The main treatment involves prevention of consumption of milk or milk related products. Prompt treatment is needed for the patients in order to prevent serious health problems and intellectual disabilities. The earlier the detection, the better for the babies. If treatment isn’t started shortly after birth, they may face permanent problems all throughout their lives. For children with classic galactosemia, diet is planned which excludes lactose and galactose food. Any food which involves milk, milk products, tomato sauce, processes and precanned foods et cetera should be strictly avoided by patients. Alternate to this, other supplements are provided to maintain the normal protein content in the body. Newborns who suffer from galactosemia are given a special formula free of lactose. Those are made with soy protein isolate. As children do not consume milk, their calcium content can run low which in tirn hampers growth and development. Hence, children with galactosemia are often advised to take calcium supplements to ensure they receive enough calcium each day. Vitamin D and Vitamin K supplements can also be advised for the children, It is important to keep continuous monitoring of the child with blood and urine tests to check the level of galactose in the body.

It is tough to understand galactosemia initially as infants appear normal initially. But, when they show signs and symptoms of anorexia and vomiting and loss of appetite, they should be taken to the doctors for immediate care and treatment. If left untreated, this can develop into fatal problems.

Infants and children with normal body functioning do not need to cut down on galactose and lactose products. Children may sometimes vomit the food out as a result of indigestion, but when it does not become a regular habit, they are at no danger. Nonetheless, it is important to perform routine tests for prevention of any major problem and issues.

There are some side effects of this disease, even with careful treatment. Careful treatment in girls, anyhow, cause delayed periods. They pose a higher chance of having premature ovarian failure. People also tend to develop mild mental impairment with learning problems. The level of delay varies individually.

Early detection of galactosemia, proper treatment and complete avoidance of milk or milk related products help a person to recover quickly and lead a normal life. Although there is no known cure as the body itself naturally produces some galactose, precaution and proper care can help prevent any major complications or problems. Children should be tested with blood and urine samples every month to check the level of galactose and lactose in the body.

Treatment of galactosemia mainly involves a change in the diet apart from the tests for diagnosis of the disease. The cost may range between Rs. 500- Rs. 5000.

The result of the treatment is permanent in the sense it prevents any major problem or permanent disability in the child. Earlier detection of the disease can help a child lead a comparatively normal life with treatment and avoidance of milk. There is no known permanent cure for this disease as the body’s natural metabolism helps to produce galactose. Symptoms last throughout the life time of a person but in a generally harmless way. Any permanent disability can be avoided with consumption of lactose and galactose free food.