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Galactosemia Causes

Lactose found in food especially in dairy products is broken down by digestive enzymes into glucose and galactose. In individuals with galactosemia, galactose cannot be metabolized due to severe lack of enzymes thus leading to the toxic build up of galactose in the blood.

Galactosemia Definition

Galactosemia is a rare congenital metabolic disorder which undermines the affected individual's ability to properly metabolize galactose, one of the sugars found in dairy products. The disorder was first described in 1917 by Goppert, and later fully identified in 1956 by a group led by Herman Kalckar. The incidence ratio of classic type galactosemia is 1 per 47,000 births. Glactosemia is often confused with lactose intolerance. However, galactosemia is a worse condition. Individuals with lactose intolerance have an inherited shortage of the enzyme lactase. These individuals experience abdominal pains after ingesting lactose products but don't have long term effects. In galactosemia, individuals who are afflicted with this disorder tend to have permanent damage to their bodies.

Galactosemia Diagnosis

Diagnosis for Galactosemia can be done through a routine newborn screening.

Galactosemia Symptoms and Signs

Short term effects cannot fully be felt. Long term effects bring about permanent damage to the body such as speech deficits, dysmetria, ataxia, diminished bone density, cataract, and premature ovarian failure. Severe build up of galactose in the blood can result to hepatomegaly, cirrhosis, brain damage, and renal failure.

Galactosemia Treatment

The treatment for Galactosemia is directed towards changing the individual's diet. Sources of galactose and lactose are eliminated from the diet. Individuals diagnosed with Duarte galactosemia need not restrict their diet. However, individuals with classic galactosemia should not be breast-fed as breast milk contains lactose. They can, however, be fed specialized milk formulas.

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