Doctor insights on:
Infantile cataracts: Milk sugar is converted into galactose and this, under genetic control, is converted into glucose, the fuel of the brain. In this disease the gene is recessive and has to be inherited from both parents. Galactose accumulates in the blood and it is this that results in cataracts. There is also mental retardation. Prevention is easy. Avoid milk and any foods containing galactose from birth on.
Hepatomegaly, otherwise known as an enlarged liver, is a clinical finding in which the liver is found to be larger than is normal, either by the physical exam from a physician or by imaging such as CT scan or ultrasound. This can be due to alcoholism, hepatitis viruses, inherited liver ...Read more
Von Reuss: A doctor, noted in 1908 the presence of galactose in the urine of a baby with failure to thrive and enlargement of the liver and spleen. The galactose in the urine vanished when milk was removed from the diet. In 1935 the metabolic pathway was described by Leloir, who later won the nobel prize for his work. The gene was identified in 1956. In 1963 a method developed by Guthrie and Paigan allowed early identification by way of newborn screening.
Galactosemia: With proper diet followed, people with galactosemia are normal. That is a very tall order however, this space is too small for all the effects. Go to nih website and click on rare diseases for a wealth of information about this and other rare metabolic disorders and their effects. Also, work closely with both a dietician/nutritionist and a metabolic doctor to ensure optimal outcome.
Avoid galactose: Galactosemia results when one born without the ability to make galactose is exposed to that sugar (common in human and bovine milk).Without the enzyme to break it into its parts, it can build up and interfere with a babies metabolism. Simply not feeding the child anything with this sugar will avoid the problem.
No!: Galactosemia cannot be cured. But, you can take steps to prevent or minimize galactosemia symptoms and complications. The treatment is the strict avoidance of all sources of galactose. The most common source is lactose, which is the milk sugar that breaks down to galactose and glucose. Avoid: milk or milk by-products, fermented soy products, legumes, organ meats, & hydrolyzed protein.
Liver disease: Hepatomegaly means that the liver is larger than is normal. Parenchyma is the main tissue of the liver. Diffuse parenchymal disease means that there is diffuse disease throughout the liver tissues. This could be due to many different causes so check with your doctor for further information.
TooLittleInformation: Hepato-megaly=hepatic (liver) + enlargement. Enter-itis=enteric organ (bowel) + itis="inflamation of". Thus these terms are only descriptive of what someone believes/sees on whatever basis. There is no good information within these descriptive words, however accurate on whatever basis, to better understand what is going on or likely to happen over time.
See below:: Infants with unrecognized galactosemia usually have problems with feeding and do not grow as well. Untreated, infants can develop cataracts, liver disease/kidney problems. Build-up of galactose and galactose-1-phosphate can cause brain damage, and in some cases, can lead to death. Even with treatment, some children may develop learning disabilities. With dietary management-most enjoy good health!
Missing enzyme: Gene defects can be passed from unaffected parents to their kids if it takes 2 pieces, one from each parent, for the mistake to cause symptoms. In galactosemia, the gene pair responsible for making galactose is defective, so it is not made = causes galactose to build up in the kid = galactose-emia (galactose in the blood).
If genes present: Galactosemia (presence of excessive galactose in the blood) can develop in an infant born without the genes that codes for galactase, the enzyme that breaks down galactose. Removal of galactose from the diet (this is the sugar in mothers milk), will prevent the problem & its many bad effects on the body.
No good answer.: It is just a statistical fact. Geneticists may have a possible answer in the future, but there is no medical reason I am aware of. Of course it is identified since galactose is consumed as a humans in many food, especially milk which contains lactose---glucose/glactose.
What's the cause?: A big liver is a feature of a huge number of different diseases, each capable of killing. Most familiar is the big liver of alcohol abuse, especially after a bender. Treatable causes of livers enlargement due to primary disease include the hepatitis family, drug allergy, wilson's, hemochromatosis, lack of exercise, and a few others. Find the cause and address it -- and good luck!
Question too broad: The answer will depend on the cause of the enlarged liver. If you know the reason/illness/cause the answer can be more specific.
Depends: If your hepatomegaly is the result of an acute condition, for example Hepatitis A or Mono it should resolve in days to weeks. If the cause is different: hepatitis C or congenital, among other possibilities, there is a chance that it will progress slowly. Finding the cause is critical in predicting its behavior.
Simple: Ask for a blood galactose. I don't know why you ask but if there is any suspicion the disease is exacebated by milk. Its effect is to cause cataracts, one of the few causes of this in infancy.