Tuesday 19 May 2015

A General Look into Galactosemia

What is Galactosemia?
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Galactosemia is an recessive inheritance of an enzymatic defect in the breaking down of galactose.

Due to the lack of the enzyme galactose-1-phosphate uridyl transferase (GALT), people with galactosemia cannot metabolise galactose. 

When galactose accumulates in the body, it becomes toxic. In fact, there is a 70% chance that an infant could die when this disorder is not treated.

Sources of Galactosemia
Galactose can be found in food commonly consumed in our everyday life. Surprisingly, many fruits are also listed among those containing galactose. How does one with galactosemia lead a healthy lifestyle when they cannot consume fruits, which has always been a major component of a healthy lifestyle? It makes me wonder what other food alternatives must they rely on get their daily nutrients.
(List of Food with High Galactose Content).

Galactose is also formed when lactose in milk is broken down. Milk is a major constituent of an infant's diet, it is essential to the growth and development of a child. Hence, as soon as a baby is diagnosed with galactosemia, breast milk and milk-based infant formulas must be stopped and an alternate diet must be constructed. There are two groups of formulas that are recommended for babies with galactosemia: soy formulas and elemental formulas. Both formulas supply all of the necessary nutrients and calories to help your baby grow and develop.

The body also synthesizes galactose during the formation of glycolipids and glycoproteins in several tissues.

Treatment

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Logically, the treatment for glycosemia would be to inhibit galactose and lactose in a person's diet. There is yet to be a drug substitute that can be taken for the missing enzyme. Having come to learn about bacteria being genetically modified to produce insulin to treat diabetic patients, I have personally come to wonder if it is possible to genetically engineer an organism to produce the GALT enzyme. However, I have not been able to find any articles pertaining to this route of interest.

As this is a genetic disorder, perhaps the concept of genetically designing a baby can be applied here. Technically, if the faulty gene is "corrected" to functionally produce GALT, wouldn't the disorder be cured?  Perhaps in the near future further research will be done to develop more treatments for people with glycosemia..

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