What is the most severe type of galactosemia?
What is the most severe type of galactosemia?
Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth.
What is galactosemia type 2?
Galactokinase deficiency or galactosemia type II is a rare inborn error of galactose metabolism. Galactosemia type II is rarer and more insidious than other galactosemia types and results in the formation of nuclear cataracts without provoking intolerance symptoms.
What is the normal range for galactosemia?
In classic galactosemia Normal level of erythrocyte galactose-1-phosphate is <1 mg/dL. Plasma free galactose is usually >10 mg/dL, but may be as high as 90-360 mg/dL (5-20 mmol/L). Galactose-1-phosphate uridylyltranserase (GALT) enzyme activity is absent or barely detectable.
What are the types of galactosemia?
There are three main types of galactosemia:
- Classic (type I)
- Galactokinase deficiency (type II)
- Galactose epimerase deficiency (type III)
What is the life expectancy of someone with galactosemia?
With a galactose-restricted diet patients have a normal life expectancy. However, patients may still suffer long-term complications such as problems of mental development, disorders of speech, hypergonadotrophic hypogonadism and decreased bone mineral density (Bosch 2006).
Can galactosemia go away?
There is no cure for galactosemia or approved medication to replace the enzymes. Although a low-galactose diet can prevent or reduce the risk of some complications, it may not stop all of them.
Can galactosemia be cured?
Typically diagnosed in newborn screening tests, galactosemia can be treated only by entirely removing lactose and galactose from the diet. There is no cure yet.
Can a baby with galactosemia breastfeed?
There is no cure for classic galactosemia; instead, children are treated with a special galactose-free diet in which they avoid all milk and milk-containing products as much as possible for the rest of their lives. This includes: Breastmilk.
What part of the body does galactosemia affect?
Excess galactose in the blood affects many parts of the body. Some of the organs that may be affected include the brain, eyes, liver, and kidneys. Infants with galactosemia usually have diarrhea and vomiting within a few days of drinking milk or formula containing lactose.
Which food should be avoided in galactosemia?
A person with galactosemia must avoid foods containing milk and all dairy products, such as:
- Cow’s milk.
- Ice cream.
Is there a cure for galactosemia?
The most common treatment for galactosemia is a low-galactose diet. This means that milk and other foods that contain lactose or galactose can’t be consumed. There is no cure for galactosemia or approved medication to replace the enzymes.
What is the difference between galactosemia type 2 and 3?
Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the classic type.
Which is the most severe form of galactosemia?
Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose. Classic galactosemia, also known as type I, is the most common and most severe form of the condition.
What happens if you have too much galactose in your blood?
Galactosemia means having too much galactose in the blood. The buildup of galactose can lead to serious complications and health problems. There are four main types of galactosemia disorders: type 1, or classic and clinical variant galactosemia. type 2, or galactokinase deficiency.
How often does galactosemia occur in newborns in the US?
Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. Galactosemia type II and type III are less common; type II probably affects fewer than 1 in 100,000 newborns and type III appears to be very rare. Mutations in the GALT, GALK1, and GALE genes cause galactosemia.
Which is more common type 1 or Type 2 galactosemia?
Type 1 galactosemia occurs in 1 out of every 30,000 to 60,000 babies. Type 2 galactosemia is less common than type 1 and occurs in 1 out of every 100,000 babies. Type 3 and Duarte variant galactosemia are very rare. Galactosemia is more common among those who have Irish ancestry and among people of African descent living in the Americas.
What happens to a baby with galactosemia type II?
Babies with type II or type III also will have fewer issues than babies with classic galactosemia. However, they still can develop cataracts, kidney and liver issues, and have delayed growth. Girls with galactosemia may require hormone treatment when they reach puberty.
What are the statistics on too much galactose?
Statistics on Galactosemia. 1. Type II Galactosemia has the same issues as classic Galactosemia, but only results in cataract formation when too much galactose is in the body. 2. Galactosemia is not the same as lactose intolerance. It is far more serious. 3. If left untreated, classic Galactosemia will kill 3 out of 4 infants.
How is galactosemia the same as lactose intolerance?
1. Type II Galactosemia has the same issues as classic Galactosemia, but only results in cataract formation when too much galactose is in the body. 2. Galactosemia is not the same as lactose intolerance. It is far more serious. 3. If left untreated, classic Galactosemia will kill 3 out of 4 infants. 4.