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Doctor insights on: Is It Safe To Galactosemia

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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

Dr. Gregory Moneta
16 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


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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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What can I do to care for a baby with galactosemia?

What can I do to care for a baby with galactosemia?

Watch the diet: Most babies with galactosemia do great if they stick to a specific diet. In particular, avoiding regular cow's milk is very important. For this condition, soy is a good option. Also, working with a genetic nutritionist who can make recommendations on which foods to avoid once your baby is eating solid foods will help to avoid problems due to this enzyme deficiency. ...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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How many people, what age suffer from galactosemia?

How many people, what age suffer from galactosemia?

See below:: Classic galactosemia occurs in approximately 1 of 60, 000 live births. However, the reported incidence of galactosemia varies geographically from 1 in 30, 000 to 40, 000 in europe to 1 in 1 million in japan. The estimated incidence in the United States is 1 in 53, 000. It occurs in the neonatal/infancy age group. ...Read more

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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 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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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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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