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Doctor insights on: Galactosemia Hepatomegaly

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What are the symptoms of galactosemia?

What are the symptoms of galactosemia?

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.

Dr. ASHRAF MALEK
172 Doctors shared insights

Enlarged Liver (Definition)

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


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How was cause of galactosemia was discovered?

How was cause of galactosemia was discovered?

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.

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Need expert help here. What are the effects of galactosemia?

Need expert help here. What are the effects of galactosemia?

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.

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What are the treatments for galactosemia?

What are the treatments for galactosemia?

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.

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Why is there hepatomegaly in cml?

Why is there hepatomegaly in cml?

Depends: It may become enlarged due to infiltration by the CML cells or because of extramedullary hematopoiesis (where blood cells begin to be made by the liver and spleen due to poor production in the bone marrow).

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Any alternative treatments for galactosemia?

Any alternative treatments for galactosemia?

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.

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What is the meaning of hepatomegaly with diffuse parenchymal disease?

What is the meaning of hepatomegaly with diffuse parenchymal disease?

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.

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My son is diagnosed with mild hepatomegaly with enteritis is it serious?

My son is diagnosed with mild hepatomegaly with enteritis is it serious?

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.

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How does galactosemia affect you?

How does galactosemia affect you?

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!

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Is galactosemia serious for women?

Is galactosemia serious for women?

See Below:: A female with galactosemia is at increased risk for premature ovarian insufficiency/failure.

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What causes galactosemia in young women?

What causes galactosemia in young women?

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).

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Is it possible for a baby devolop galactosemia?

Is it possible for a baby devolop galactosemia?

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.

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What is the definition or description of: Galactosemia?

What is the definition or description of: Galactosemia?

No cow's milk for yo: It is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. If it is a newborn he cannot be on breast milk of cow's milk based formula, he should be switched to soy formula and seen by a Geneticist.

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Why is galactosemia so much more common than frutosemia?

Why is galactosemia so much more common than frutosemia?

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.

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Is it true that hepatomegaly cause death?

Is it true that hepatomegaly cause death?

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!

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How many month does hepatomegaly require to recover?

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.

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What is mild hepatomegaly with diffuse fatty changes?

What is mild hepatomegaly with diffuse fatty changes?

Varies: An enlarged fatty liver (hepatomegaly) can be seen on ultrasound. This may be a more common condition in diabetics or those that are obese or overweight. Fat cells build up in the liver, and in some cases liver damage can occur.

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How much time it take to recover from mild hepatomegaly?

How much time it take to recover from mild hepatomegaly?

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.

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Can someone tell me about tests in newborn for galactosemia?

Can someone tell me about tests in newborn for galactosemia?

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.

Dr. John Landi
76 Doctors shared insights

Liver Enlargement (Definition)

Liver enlargement 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 cat scan or ultrasound. This can be due to alcoholism, hepatitis viruses, inherited liver ...Read more


Dr. Patricia Foster
17 Doctors shared insights

Galactosemia (Definition)

It is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. If it is a newborn he cannot be on breast milk of cow's milk based formula, he should be switched to soy formula and ...Read more