Galactosemia

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Galactosemia

Galactosemia


     A man named Van Ruess in 1908 discovered galactosemia. He wrote a paper titled, "Sugar Excretion in Infancy" on his findings. It told of an infant with an enlarged spleen and liver, and failure to thrive, which is when a baby does not gain the right amount of weight. Van Ruess noticed that the infant stopped excreting Galactose when it stopped having milk in the diet. The infant later died of other complications. By 1917 galactosemia was widely known as galactosuria and the only treatment was not having milk in the diet. In 1935 galactosemia was described in detail and published by Mason and Turner. It was not until 1956 they found the location of the defective gene, on chromosome 9. The hospitals started detecting galactosemia in newborns through a screening method. Guthrie and Paigen started this method in 1963.
     Infants with galactosemia may experience vomiting, diarrhea, and no weight gain. If not detected, enlarged liver, kidney failure, cataract, jaundice, brain damage or even death can occur if it is not treated. It could also cause motor skills delay and learning disabilities. In girls, there is a chance of ovarian failure later in life. This is a rare genetic metabolic disorder. A normal person’s body breaks up lactose into Galactose and glucose (used for energy). In someone with galactosemia they are missing the GALT enzyme to break up the Galactose. This causes a build up, which is like poison to the body. This is similar but different at the same time as lactose or milk intolerant. If you are lactose intolerant there is a problem with your body digesting the milk. You can see results quickly because it cannot be digested. With Galactosemia milk can me digested fine but it is after the digestion takes place, problems occur with trying to use the Galactose to make energy. It may take a while to notice symptoms. If taken small amounts some may just feel discomfort but over time will lead to more serious complications such as those mentioned above. Another difference is lactose intolerant people can be given a commercial enzyme that will break down lactose. This does not work for those needing to break down Galactose. There is no known way to inject an enzyme to trick your body into breaking down Galactose. Many states check newborn’s blood during the first week of life. Galactosemia can be detected with that test, thanks to Guthrie and Paigen in 1963. The test is the deciding factor on being breast fed or given a supplement usually made of soy. If an infant has galactosemia and has an immediate response to the disorder, they should be fine with an alternate diet all through their life. Also a prenatal amniocentesis can detect galactosemia.
     The gene that causes galactosemia is a mutation on chromosome 9. (see DIAGRAM 5) The mutation is on the long arm and the most common mutation is called "Q188R". It is inherited in an autosomal recessive pattern. Both parents must be carriers or have the trait for their child to get this disorder. If one child gets galactosemia, there is a 25% chance with each pregnancy that the parents will have another child with the same problem. A 50% chance the next child will be a carrier and 25% chance the parents will have a child not affected. There are variations in this disorder. One milder form is called Duarte Galactosemia. There is a slight mutation on the ninth chromosome. This can be detected through the same test done at birth as for galactosemia. It is recommended to start out with no milk products then gradually and certain items and test the child’s response by checking the levels of Galactose-1-Phosphate in their blood. They will show no symptoms so blood tests are the only way to tell whether or not they should have a restricted diet.
     My first experience with this disorder was with a five-year-old male. His parents came to me, as their physician, because he was throwing up and had diarrhea a couple days in a row. I checked his charts and noticed he had not gained weight since his last check-up, one year before. This is highly unusual for such a young child. I took a sample of his blood to test, my first thought was e-coli poisoning but that wouldn’t explain the unchanged weight in a year. I discovered that he had galactosemia. I had no idea the details of this disorder since I have never had to deal with it before. But as I was researching, before I had to explain to the parents, I noticed that it could be detected at birth. Most states did this test. I looked in his files and saw that he had never been checked as an infant. Since this is genetic and your genes do not change, he has had this disorder his whole life but why are we just seeing it now?? If a child has galactosemia, it is noticed at infancy while the breastfeeding would agitate the baby. My patient was breast fed until he was 15 months. His weight gain was perfectly normal until age four. He was basically pretty healthy other than the normal child illnesses such as strep throat and swimmer’s ear. I believe that he had a late onset of galactosemia. This has never been recorded before but sometime between the age of four and five, it kicked in. Since the symptoms are not seen until much later of consumption of milk products we have no idea the exact time it appeared. It is normal for a four-year-old to not gain much weight for a couple of months. But after a while, they gain weight. My guess is that a few months after the last check-up, the genetic disorder had a delayed onset. Sine he can digest milk products fine, symptoms were not noticed at first. When the body tried to break down the Galactose, it could not. The blood began to build up with Galactose since the enzyme was not there to break it up to use for energy. The gradual build-up caused the levels of Galactose-1-Phosphate in the blood to shy rockets, leading to the vomiting and diarrhea. When I told the parents they had many questions. (see QUESTIONS OF THE PARENTS) One thing I suggested was to display a DNA fingerprint with a warning of no dairy along with a bracelet with the same caution. I gave them his DNA fingerprint to use is needed. (see DIAGRAM 1) This would hopefully prevent an accidental consumption of dairy products by someone who did not know him giving him food. I also showed them their family’s pedigree displaying where their child got he disorder. I was able to do this by taking many members of the family’s blood to plot out the familial history. (see DIAGRAM 2) They were also concerned with what to feed him. I prepared a sample 5-day meal plan with no milk products for them to get a few ideas. (see DIAGRAM 3) The unsafe ingredients are butter, casein, caseinates, cheese, cream, curds, lactose, milk, dry milk solids, whey, and whey solids. All forms of milk, cheese, yogurt, cottage cheese, cream cheese, ice cream, sherbert, pudding, creamed soups and sauces, and milk chocolate are not allowed. Most meats (not organ meats such as liver and heart), eggs, fruits, vegetables, grains, breads, soy milk, fats, and sweets that do not contain Galactose or lactose are allowed in the diet. All labels should be cautiously read. I also gave them an advertisement for a chocolate factory that specializes in non-dairy products. (see DIAGRAM 4) It is important for the child to get treats just like other children.
     Galactosemia is a serious genetic disorder. Although it is rare, I have had the experience with working on a patient with the inherited gene mutation. Strangely my patient showed no symptoms until age 5. This has never been recorded in history. We do not know why or what made it trigger or suppress. The only treatment for this child is a strict diet with no dairy. The GALT enzyme is not normal and cannot break down Galactose. The body will not have to try to break down the Galactose since there will be none consumed. I will need to check the patient’s blood every six months or if the parents notice any changes in behavior, weight loss, vomiting or anything unusual. I feel privileged to be the first to have an account on this delayed onset ever happening.

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