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Doctor insights on: Galactosemia

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Dr. Katharine Cox
17 doctors shared insights

Galactosemia (Overview)

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.


Dr. Katharine Cox
17 doctors shared insights

Galactosemia (Overview)

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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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! ...Read more

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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

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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. ...Read more

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Interested to know how does galactosemia lead to hypoglycemia?

Interested to know how does galactosemia lead to hypoglycemia?

Newborn phenomena: This occurs in the newborn with inherited galactosemia. Galactose is part of lactose, which is the principal sugar in milk. Galactose needs to be broken down to glucose, but that does not happen in galactosemia. So baby is missing a big chunk of sugar intake, and his enzymes that convert fat and Amino Acids to glucose are not well developed. ...Read more

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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). ...Read more

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Do medications treat galactosemia?

Do medications treat galactosemia?

No:: Galactosemia is treated by removing foods that contain galactose from the diet. Foods containing lactose, thereby containing galactose, should be avoided. Untreated galactosemia will result in a harmful build-up of galactose and galactose-1-phosphate (a form of galactose) in the bloodstream and body tissues. Not treated, infants can develop cataracts, liver disease and kidney problems. ...Read more

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Is it true that galactosemia can be treated by dietary modification?

Is it true that galactosemia can be treated by dietary modification?

Yes.: Patients with galactosemia, or galactose-1-phosphate uridyltransferase deficiency, are unable to metabolize a sugar called galactose. Eliminating galactose from the diet is the mainstay of treatment of this disease. ...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 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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How do I get rid of hyper pigmintattion?

How do I get rid of hyper pigmintattion?

Hydroquinone: Hyperpigmentation if often caused be inflammation du to injury or infection and the action of the sun. Hydroquinone, and sunscreens can revers the process and improve the hyperpigmentation. ...Read more

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I have a rare genetic condition called galactosemia. I have been blaming my parents?

I have a rare genetic condition called galactosemia. I have been blaming my parents?

Inherited: Galactosemia is a autosomal recessive condition that you inherit which causes you to metabolise galactose and other sugars incorrectly or differently. Autosomal recessive conditions usually come from both parent's--usually as carriers but not expresing the disease. No sense blaming them -- you may pass it on to your children. ...Read more

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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. ...Read more

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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! ...Read more

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Do medications treat galactosemia?

No:: Galactosemia is treated by removing foods that contain galactose from the diet. Foods containing lactose, thereby containing galactose, should be avoided. Untreated galactosemia will result in a harmful build-up of galactose and galactose-1-phosphate (a form of galactose) in the bloodstream and body tissues. Not treated, infants can develop cataracts, liver disease and kidney problems. ...Read more

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Is galactosemia serious for women?

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

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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

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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). ...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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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. ...Read more