What does galactosemia mean?

What does galactosemia mean?

Galactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose.

What are the 3 types of galactosemia?

There are three main types of galactosemia:

  • Classic (type I)
  • Galactokinase deficiency (type II)
  • Galactose epimerase deficiency (type III)

What is galactosemia and discuss causes and symptoms?

Galactosemia means “galactose in the blood”. Babies with this metabolic condition are not able to metabolize a certain type of sugar (galactose) found primarily in breast milk, cow’s milk, and dairy products. When galactose can’t be broken down and digested, it builds up in the tissues and blood in large amounts.

How does galactosemia affect the body?

Galactosemia affects the body by preventing it from breaking down galactose, a simple sugar found in lactose. If a person continues to ingest galactose, they will experience a toxic build-up that can cause cataracts and brain, liver, or kidney damage.

How does a child get galactosemia?

Galactosemia happens when there’s a change (mutation) in the genes that make an enzyme that breaks down galactose. To have galactosemia, a child must inherit two galactosemia genes, one from each parent. In galactosemia, galactose and its byproducts build up in the blood. This can damage cells and parts of the body.

What is classic galactosemia?

Classic galactosemia (CG, OMIM # 230400) is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT, E.C. 2.7. 7.12). GALT is the second enzyme in the Leloir pathway, the main route of galactose metabolism.

Can adults have 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.

What foods contain galactose?

Galactose Rich Foods

  • Formulated bar, SLIM-FAST OPTIMA meal bar, milk chocolate peanut (5.62g)
  • Honey (3.1g)
  • Dulce de Leche (1.03g)
  • Celery, cooked, boiled, drained, without salt (0.85g)
  • Celery, cooked, boiled, drained, with salt (0.85g)
  • Beets, canned, regular pack, solids and liquids (0.8g)

What type of disorder is galactosemia?

Galactosemia is an autosomal recessive genetic disorder. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent.

What foods is galactose found in?

The major dietary source of galactose is lactose, a disaccharide formed from one molecule of glucose plus one of galactose. Lactose is found only in milk; after weaning, significant quantities of dietary lactose are found only in dairy products (Table 1).

Is there a cure for galactosemia?

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. In some cases, children still develop problems such as speech delays, learning disabilities, and reproductive issues.

What foods should be avoided with galactosemia?

A person with galactosemia must avoid foods containing milk and all dairy products, such as:

  • Cow’s milk.
  • Butter.
  • Yogurt.
  • Cheese.
  • Ice cream.

What is the life expectancy of someone with galactosemia?

The life expectancy of a person with Galactosemia, as long as it is diagnosed soon after birth, is that of a typical person as long as the proper diet is followed. Without treatment, there is a 75% fatality rate within the first two weeks of life.

What effect does galactosemia have on the body?

Common complications of galactosemia include: liver damage or liver failure serious bacterial infections sepsis, which is a life-threatening problem caused by infections shock delayed development behavioral problems cataracts tremors speech problems and delays learning disabilities

What to know about galactosemia?

Galactosemia Galactosemia occurs when babies do not have enough of the GALT enzyme. Babies start showing health effects within days of feeding on breast milk or milk-containing formulas. Virtually all cases of classic galactosemia can be detected by newborn screening.

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