Top
10
Doctor insights on: Galactosemia Irritability

Share
1

1
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. John Landi
436 doctors shared insights

Fussiness (Definition)

The term "irritability" is used for infants and young children who, when ill, are especially fussy, whiny, and fretful, despite attempts at comforting and soothing them. Irritability can be a very early sign of serious problems. Although irritability is not a symptom of any specific illness, it should arouse suspicion in the parent that something might be wrong with the child, even though there may not ...Read more


2

2
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

3

3
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

4

4
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

5

5
How is galactosemia a genetic disorder?

How is galactosemia a genetic disorder?

Recessive defect: Our parents give us genetic information in gene pairs at conception. If a critical enzyme can be produced with information from just one gene, it is called dominant. Parents who carry one bad gene in a pair don't have symptoms, but can pass the bad gene to baby. If baby gets 2 bad genes at conception, they cannot make the enzyme.Galactosemia results from inheriting recessive bad genes. ...Read more

6

6
Can people with galactosemia drink alcohol?

Can people with galactosemia drink alcohol?

Depends: The alcohol wouldn't be a problem for most, but some mixes may have galactose sugar which would be(think milk or creamy additives). If they are vigilant about researching which drinks or mixes they should avoid, i thing an occasional drink would be fine. ...Read more

7

7
Should people with galactosemia drink alcohol?

Should people with galactosemia drink alcohol?

Depends: The alcohol wouldn't be a problem for most, but some mixes may have galactose sugar which would be(think milk or creamy additives). If they are vigilant about researching which drinks or mixes they should avoid, i thing an occasional drink would be fine. ...Read more

8

8
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

10

10
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

Dr. Payam Mehranpour
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. James Mirabile
587 doctors shared insights

Irritability (Definition)

when you're irritable, you might become easily ...Read more