Galactosemia

Galactosemia is a genetic disorder which affects a person’s ability to properly metabolize the sugar galactose.

Under normal conditions, lactose in food is metabolized within the body into glucose and galactose. Then, most of this galactose is converted into another type of glucose by the action of an enzyme called galactose-1-phosphate uridyl transferase, or GALT.

Galactosemia prevents the GALT enzyme from function properly, which results in an abnormal accumulation of galactose in the blood. Galactose then reaches a toxic level, producing liver enlargement (hepatomegaly), kidney failure and even brain damage.

Causes Of Galactosemia

There are two well defined types of galactosemia: the Classic galactosemia and the Duarte galactosemia.

Classic galactosemia is caused by the complete or almost complete lack of the galactose-1-phosphate uridyl transferase (GALT) enzyme. It is an autosomal recessive genetic disorder, caused by the 9p13 gene. Duarte galactosemia consists on a reduction of about 40%-50% of GALT enzyme in blood instead of a full deficiency, which makes this type of galactosemia not as severe as the classic one. It is also believed to be an autosomal recessive genetic disorder.

Symptoms Of Galactosemia

The extent and severity of the symptoms of galactosemia depend heavily on the amount of lactose present in a person’s diet.

Symptoms of galactosemia are similar to those experienced by people with lactose intolerance (a deficiency of the lactase enzyme). They include a strong abdominal pain after lactose ingestion. It is important, however, to differentiate between a person with lactose intolerance and a person with galactosemia. Lactose intolerance does not have long term effects, while galactosemia is a much more severe condition that can cause permanent damage to different body parts, such as permanent learning disability and irreversible ovarian failure in girls.

Treatment Of Galactosemia

The treatment for galactosemia consists on the complete elimination of lactose and galactose from the patient’s diet. In some cases, even with an early detection and an adequate diet, some symptoms may appear. In infants, breast feeding is replaced with other types of feeding formulas, due to the high amount of lactose present in human breast milk.

Coping With Galactosemia

It is possible for people suffering from Galactosemia to live a normal life, especially when dealing with Duarte galactosemia. As a general rule, the ingestion of vitamins and certain minerals can help improve the brain condition, and of course following the diet recommended by an expert is a must.

It is important to notice that the elimination of lactose in a diet does not necessarily mean that the patient cannot enjoy varied meals. There is quite a lot of food recipes (even desserts) designed for people with galactosemia.

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