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Jaundice is one of the symptoms of galactosaemia but what happens in galactosaemia that actually causes it?
Galactose liver toxi: Because in galactosemia there is bodys ability to metabolise galactose due to deficiency of liver enzymes needed for that.It causes accumulation of galactose in the body and it damages the liver and that is the cause of jaundice.If not corrected by lactose(breaks down in body into galactose&glucose) free diet.Lactose is the sugar in human and cows milk.So these babies are given soybean milk etc. ...Read more
Jaundice is also known as Yellow Eyes And Skin. Jaundice is the accumulation in the body of bilirubin. Normally it is excreted by the liver, via the bile. For a lot of different reasons, sometimes the bilirubin can accumulate. The most common reasons are a problem with the liver or the bile duct. This can make the skin and/or the whites of the eyes turn yellow. If this occurs, see your ...Read more
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
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
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 moreSee 1 more doctor answer
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
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
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
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
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
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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