Definition of disease, how common?
Galactosemia is a disease caused by the lack of enzyme production which prevents you from metabolizing galactose, creating high concentrations harming many body organs, specially the liver and nervous system. There are three types of galactosemia classic, type II, type III. Classic appears in 1 out of 30,000 to 60 000, is not noticeable until the baby receives milk for the first time ant then the symptoms stat appearing. Type II less than 100,000 to 155,000, it is less deteriorative than Type I if the diet is followed. Type III is really rare and has two forms severe, and benign.
Causes, including the genes that are responsible
This disease is caused by the unlikely mutation of the genes which is recessive trait that is passed on. Classic on the GALT (galactose-1-phosphate uridyl transferase), type II on the GALK1 (galactokinase), and Type III on the GALE (uridyl diphosphogalactose-4-epimerase), still abnormalities could occur.
Cirrhosis of the liver, enlarged liver, cataracts, mental retardation, neonatal death, vomiting, diarrhea, jaundice, poor weight gain, failure to thrive, and malnutrition. Normally when a Baby receives milk and vomits it's an important sign and should be checked immediately. If people ignore the symptoms the most a baby could live is up to two weeks. Type III benign form has zero symptoms and you don't even notice so you don't have to keep up with any special diet. Something interesting about these two types is that in the initial screenings done to the baby it shows high levels of galactose and galactose-1-phosphate. This is why it is extra important to keep up with enzyme function tests. Normal levels of GALT and GALK let people with galoctosemia III and benign form enjoy a normal diet. The symptoms for severe form are almost the same as classic galactosemia but with a higher level of neurotical problems, including seizures. So far only two cases of severe form are almost the same as classic galactosemia III have been reported as of 1997
Type of Genetic Testing Possible and Diagnosis
There are two categories of Clinical Genetic Testing, diagnostic testing and carrier testing. Diagnostic testing is used to confirm if the person really has the disorder by biochemical testing through blood and/or urine samples. Carrier testing involves DNA testing to know if anyone in the family has mutated gene. High levels of galactose in the blood confirm diagnosis, along with liver biopsy, liver enzymes, urinalysis, ophathalmoscopy, and amniocentesis. Sometimes misdiagnosis can occur according to the Mayor Clinic Proceedings 26 percent of the diagnosis has been missed, costing the government a lot of money. Medical misdiagnosis is combined of three main categories: False positive (misdiagnosis of a disease that), false negative (failing to diagnose the disease), and equivocal results (undefined results of the diagnosis).
Treatment and Prognosis
The treatment practically consists of avoiding milk and any products containing it for Types I and II. The baby can be fed with soy formula, meet-based, or Nutramigen. It is really important that Galactosemia is treated because about 75 percent of the babies born won't live beyond the first two weeks of life. Otherwise if treated can practically live normal lives, still people would have some speech, mental and/or conduct problems. For Type III the lifelong treatment it's undefined so avoiding milk doesn't guarantee that you won't have any symptoms.
Something that might make a lot of parents happy is that a lot of states screening programs include testing for galactosemia which can prevent the death of the baby by just keeping up with the milk-free diet. Von Ruess discovered for the first time galactosemia in 1908. Other names for galactosemia are: Epimerase deficiency galactosemia, Galactokinase Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease, Galactose Epimerase Deficiency, GALT Deficiency, UDP-Galactose-4-Epimerase Deficiency Disease, UDPglucose 4-Epimerase Deficiency Disease, UDPglucose Hexose-1-Phosphate Uridylytranferase deficiency, and UTP Hexose-1-Phosphate Uridylytranferase Deficiency. The GALT gene is found in the Chromosome 9 which guilty for causing galactosemia. Galastose is not only found in milk but also in dried beans. Being lactose intolerant is sometimes confused with galactosemia but when you are lactose intolerant if you drink milk it will only cause you a temporary pain when with galactosemia it's totally different because it could harm you for life.
I never really thought galactosemia could affect a person so much. In a way I also think that it might be a little bit easier to find food for babies affected by the disease because now in days we have more options with food when you go to the supermarket unlike years ago where there were not a lot of options to choose from. I never imagined the side effects of galactosemia and how fast it can kill babies. The parents must have a hard time at start but slowly discovering shortcuts along the road. I hope more families with people with this disease keep getting educated and helping more and more their child in need.