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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. ...Read more

Dr. ASHRAF MALEK
169 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. ...Read more

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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. ...Read more

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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. ...Read more

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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). ...Read more

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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. ...Read more

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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. ...Read more

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What's a borderline hepatomegaly with fatty infiltration of the liver?

What's a borderline hepatomegaly with fatty infiltration of the liver?

A radiology finding: Usually something noted or commented upon by a radiologist on ultrasound or ct scan. An enlarged liver with excess fatty cells can be from obesity, poor diabetes management, or other medical or medication induced liver changes. Rarely can progress to marked liver damage. ...Read more

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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. ...Read more

Dr. Marvin Ott
17 doctors shared insights

Galactosemia (Definition)

Galactosemia is an inherited condition in which there is an inability to break down a type of sugar called galactose, leading to its accumulation in the body. This can cause damage to the eyes, liver, kidney, and brain resulting in the yellowing of skin, seizures, poor feeding, ...Read more


Dr. Janice Alexander
74 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