Galactosemia

//Overview/Signs and symptoms: //

This disorder refers to a defect in galactose metabolism. It mostly affects a person's ability to metabolize the sugar (galactose) properly. It is proven to be more common to appear throughout the [|Irish Traveler] population. Some symptoms include convulsions, irritability, [|lethargy], vomiting, poor weight gain, poor infant feeding, and [|jaundice]. In many cases this disease can cause eye cataracts. People with Galactosemia have a really hard time fully breaking down sugars in their body.

Example(s):


 * (How Galactosemia works [Above])\The struggle of a family who adopted an orphan with Galactosemia: https://www.youtube.com/watch?v=9xrn3wvqk1g

Background Information/History:

The history if Galactosemia is a tricky and lengthy one. Is was first 'discovered' in 1908. Von Ruess made a publication in 1908 called, "Sugar Excretion in Infancy". It talked about infants that were breast-fed that couldn't thrive, and suffered enlargement of the liver and spleen, and 'galactosuria'. The infants couldn't get galactose out through urination when milk products were taken out of the infant's diet. By the time 1917 rolled around, 'galactosuria' was a widely recognized inherited disorder, and people treated by the removal of milk products. It was finally noticed and described in detail as a disease in 1935. A major breakthrough was that clinicians finally found the defective gene that caused it in 1956. Another major breakthrough happened in 1963 when clinicians found a way how to detect it with a newborn screening method made by Robert Guthrie.

References: The video describes a girl who grew with Galactosemia. She had to deal with the symptoms and struggles of the disorder, but in the end she pulled through.
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 * __Galactosemia video:__[]

//Treatment Options: //

Treatment should start before a baby is 10 days old. You should already have been informed by your doctor of your child's condition. You should keep your child on a specific diet of non-dairy products. It is imperative to read labels of certain products to make sure they do not contain any form of galactose within it. Infants are recommended to be fed a soy or meat based formula to ensure that there is proper development within the body. Once the child in no longer a newborn, treatment is almost completely meaningless because there is no other form of treatment. There is no form of a 'cure' for galactosemia. There is no way to fully get rid of the disease.

//Genetics: //

[|Galactosemia is an autosomal recessive hereditary disorder. It is inherited in an autosomal recessive manner.] It can affect both boys and girls. Offspring can inherit it when both parents are missing or have a non-working Galactosemia gene. Galactosemia is believed to be able to skip a generation of both parents.

//Distribution://

This disorder can be found within 30,000-60,000 infants. It can be present within any ethnicity, and at any point anywhere in the world.