Galactose epimerase deficiency

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Galactose epimerase deficiency (pronounced: gə-lăk′tōs ep′ə-mər-ās dĭ-fĭsh′ən-sē) is a rare genetic metabolic disorder that affects an individual's ability to properly metabolize the sugar galactose. The condition is also known as UDP-galactose-4-epimerase deficiency.

Etymology

The term "Galactose" is derived from the Greek word 'galaktos' meaning 'milk', as galactose is a sugar commonly found in lactose, the sugar in milk. "Epimerase" refers to the type of enzyme that is deficient in this condition. An epimerase is an enzyme that catalyzes the inversion of stereochemistry in carbohydrates. "Deficiency" comes from the Latin word 'deficientia' meaning 'a lack or shortage'.

Causes

Galactose epimerase deficiency is caused by mutations in the Gale gene that provides instructions for making an enzyme called UDP-galactose-4-epimerase. This enzyme is involved in the process of breaking down galactose in the body. When the Gale gene is mutated, the enzyme's activity can be reduced or completely absent, leading to an accumulation of galactose in the body.

Symptoms

The symptoms of galactose epimerase deficiency can vary widely, from very mild to severe. They may include failure to thrive, liver disease, brain damage, and cataracts. Some individuals may have no symptoms at all.

Diagnosis

Diagnosis of galactose epimerase deficiency is typically made through a blood test that measures the level of galactose in the blood. Genetic testing can also be done to identify mutations in the Gale gene.

Treatment

There is currently no cure for galactose epimerase deficiency. Treatment typically involves a galactose-free diet to prevent the accumulation of galactose in the body.

See also

External links

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