Doctor insights on:
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
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
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
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
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
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
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
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
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. ...Read more
- Talk to a doctor live online for free
- Is seizures a symptom of galactosemia?
- Is it safe to galactosemia?
- Ask a doctor a question free online
- Galactosemia in infants
- Is it normal to galactosemia?
- Pathophysiology of galactosemia
- Galactosemia in adults
- Talk to a pediatrician online