What are the three types of galactosemia?
There are three main types of galactosemia:
- Classic (type I)
- Galactokinase deficiency (type II)
- Galactose epimerase deficiency (type III)
What does galactosemia do to the body?
People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up one half of lactose, the sugar found in milk. If an infant with galactosemia is given milk, substances made from galactose build up in the infant’s system. These substances damage the liver, brain, kidneys, and eyes.
What are some of the symptoms associated with galactosemia?
If given milk or milk products, a newborn or infant with galactosemia can develop signs and symptoms that include:
- Poor feeding.
- Vomiting.
- Jaundice.
- Poor weight gain.
- Failure to regain birth weight, which usually happens by the time a newborn is two weeks old.
- Lethargy.
- Irritability.
- Seizures.
What kind of disease is galactosemia?
Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body’s ability to convert galactose to glucose. Galactose is a sugar contained in milk, including human mother’s milk as well as other dairy products. It is also produced by the human body, and this is called endogenous galactose.
What organs are affected by galactosemia?
Since there is not enough of the enzyme, galactose builds up in the blood. This build up can cause severe damage to the liver, kidneys, central nervous system, and other body systems. If undetected, galactosemia is fatal.
Can adults get galactosemia?
Galactosemia symptoms that adults may experience Cataracts 1 in 5 people with Galactosemia develop Galactosemia-related cataracts as an adult, which is caused by build-up of toxic galactitol in the lens of the eye.
Can galactosemia be cured?
Galactosemia is a disease that cannot be cured. The disease can only be managed in order to help prevent complications of the condition. The only way to manage galactosemia is to eliminate lactose and galactose from the diet completely.
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).
What are symptoms of galactosemia in adults?
The most common symptoms include:
- loss of appetite.
- vomiting.
- jaundice, which is yellowing of the skin and other parts of the body.
- liver enlargement.
- liver damage.
- fluid building up in the abdomen and swelling.
- abnormal bleeding.
- diarrhea.
How long do people with galactosemia live?
Is galactosemia life threatening?
When galactose can’t be broken down and digested, it builds up in the tissues and blood in large amounts. Its byproducts also build up in large amounts. Because they are poisonous for the body, galactosemia may be life-threatening if not treated right away.
Can people with galactosemia drink milk?
People with galactosemia need to avoid drinking milk and eating or drinking products that contain milk. Galactosemia is an inherited disease that can result in developmental delays in your child. Galactosemia is usually discovered in newborn screening.