What happens if you have too much galactose?

What happens if you have too much galactose?

Galactosemia means too much galactose builds up in the blood. This accumulation of galactose can cause serious complications such as an enlarged liver, kidney failure, cataracts in the eyes or brain damage. If untreated, as many as 75% of infants with galactosemia will die.

Can you measure galactose?

A galactosemia test is a blood or urine test that checks for enzymes that are needed to change galactose into glucose, a sugar that your body uses for energy. A person with galactosemia doesn’t have one of these enzymes, so high levels of galactose build up in the blood or urine.

How is galactose diagnosed?

Galactosemia is usually diagnosed though tests that are done as part of newborn screening programs. A blood test will detect high levels of galactose and low levels of enzyme activity. The blood is usually taken by pricking a baby’s heel. A urine test may also be used to diagnose this condition.

How long do people with galactosemia live?

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 the symptoms of galactosemia in adults?

Initial signs/symptoms may include poor feeding, vomiting, diarrhea, jaundice, bleeding tendencies, lethargy, abdominal distension with liver swelling, and increased risk of sepsis (a reaction from a blood infection). Later symptoms can include liver failure, cataracts, and brain damage.

Where is Galactokinase found?

Galactokinase catalyzes the second step of the Leloir pathway, a metabolic pathway found in most organisms for the catabolism of β-D-galactose to glucose 1-phosphate. First isolated from mammalian liver, galactokinase has been studied extensively in yeast, archaea, plants, and humans.

What is galactose for?

Galactose is a simple sugar that is normally transformed in the liver before being used up as energy. This sugar is quite abundant in human diets and helps in a number of functions. Because galactose is a precursor to glucose production, it is an important energy-providing nutrient.

Where is galactose found?

dairy products
Sources. Galactose is found in dairy products, avocados, sugar beets, other gums and mucilages. It is also synthesized by the body, where it forms part of glycolipids and glycoproteins in several tissues; and is a by-product from the third-generation ethanol production process (from macroalgae).

Is there a cure for galactosemia?

Without treatment, most affected newborns do not survive. 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.

Is galactosemia a diabetes?

Diabetes. 1984 Jan;33(1):97-100.

What foods is galactose found in?

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 is the function of galactokinase?

Normal Function Galactokinase 1 is responsible for one step in a chemical process that converts galactose into other molecules that can be used by the body. Specifically, this enzyme modifies galactose to create a similar molecule called galactose-1-phosphate.

Where does galactose come from?

Galactose is a sugar which mainly comes from lactose, the sugar found in milks. Lactose is normally broken down into the two simple sugars, galactose and glucose. The galactose is then broken down further and used in many parts of the body including the brain.

What is the meaning of galactosemia?

Galactosemia is an inherited disorder that prevents a person from processing the sugar galactose, which is found in many foods. Galactose also exists as part of another sugar, lactose, found in all dairy products. Galactosemia means too much galactose builds up in the blood.

What genes are involved in galactosemia?

Mutations in the GALT, GALK1, and GALE genes cause galactosemia. These genes provide instructions for making enzymes that are essential for processing galactose obtained from the diet. These enzymes break down galactose into another simple sugar, glucose, and other molecules that the body can store or use for energy.

How does the Duarte variant of galactosemia affect the body?

People with the Duarte variant tend to have much milder features of galactosemia. Galactosemia type II results from mutations in the GALK1 gene, while mutations in the GALE gene underlie galactosemia type III. Like the enzyme produced from the GALT gene, the enzymes made from the GALK1 and GALE genes play important roles in processing galactose.