Galactosemia


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Galactosemia Cell

What is Galactosemia?

Galactosemia is a commonly know genetic disease. It is created from a disorder in a liver enzyme and is used to digest galactose which is the breakdown product of lactose. Blood clots are produced because galactose can not be reduced and broken down. This can lead to serious health problems. Vomiting, swollen liver and jaundice are all systems of this disease, but are usually active in babies. Its usually active in babies because lactose is important in a baby's diet. In the form of milk. It can cause internal damage of the eye, brain, liver, and kidney can occur if this disorder is left untreated. It's can also cause death.

Types of Galactosemia

Galactosemia i

This type of galactosemia is the least of the worst of the three. Since the disease is mostly found in babies, this type makes the baby look, and seem normal at birth. When the baby is giving milk for the first time, the symptoms of the disease start to take action throughout the babies body. There are many disadvantages when diagnosed with this type of galactosemia. Speech disorders, cataracts, ovarian atrophy, and infertility in females, learning disabilities, and behavioral problems are all the symptoms.This form of Galactosemia occurs when the galactose-1-phosphate uridyl transferase (GALT) is missing. This is the most common form of Galactosemia.

Galactosemia ii

This is a rare form of galactosemia. Unfortunately being rare, this type is probably the number one form of galactosemia to have, if you had to have one of the three types. Cataracts at an early age are developed for babies born with galactosemia II. These can be ignored if the baby is given a galactose-free diet. This form of Galactosemia occurs when the galactokinase (GALK) is missing.

Galactosemia iii

This form of galactosemia is extremely rare and occurs when the uridyl diphosphogalactose-4-epimerase (GALE) is missing. There are two types, an inactive form and an active form. The inactive form is more commonly found, and like the other forms are mostly found in infants. Infants born with this form of galactosemia III are born containing high levels of galactose-1-phosphate. People who have been tested and identified with normal levels of GALK and GALE, are able to proceed in a enjoyable regular diet. The symptoms for this form are very similar to the symptoms in galactosemia I, but have more severe neurological problems. The active form of galactosemia III is very rare. In history only two medical records have recorded it. It is very deadly and normally leads to seizures.
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These are the organs affected by Galactosemia


The Chemical Cause for Galactosemia


Galactosemia is an inherited disorder of DNA or genes. This error occurs when one of the three enzymes that converts galactoses into glucose-1-phosphate are missing or inactive in the body. The enzymes are: galactose-1-phosphate uridyl transferase (GALT), galactokinase, and UDP galactose epimerase. With one of the three enzymes missing the body can’t convert the galactose into glucose-1-phosphate. This causes galactose to build up in the body and causes it to flow through the blood. This can cause severe lever damage and death.

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Here's a diagram of the chemical immbalance of Galactosemia.






Sources:

http://www.nativeremedies.com/ailment/natural-metabolism-boosters.html
http://depts.washington.edu/transmet/gal.html
http://medical-dictionary.thefreedictionary.com/Galactose+epimerase+deficiency
http://pubchem.ncbi.nlm.nih.gov/image/imgsrv.fcgi?t=l&cid=6036
http://www.newbornscreening.info/Parents/otherdisorders/Galactosemia_small.jpg
http://learn.genetics.utah.edu/content/disorders/whataregd/galactosemia/images/galacOrgans.jpg