How does galactosemia affect the liver?
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.
Who is most affected by galactosemia?
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 are the biochemical effects of galactosemia?
GALACTOSEMIA is a hereditary disorder of carbohydrate metabolism characterized by vomiting, diarrhea, jaundice, poor weight gain, and malnutrition during early infancy (Fig. 1). Mental retardation, cataracts, and cirrhosis of the liver are sometimes seen in this condition.
What organs are affected by galactosemia?
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.
Can you grow out of galactosemia?
Galactosemia is a lifelong condition that children will not outgrow. However, galactosemia can be easily managed by following a galactose-free diet.
What do you need to know about galactosemia?
Galactosemia is a genetic disorder that occurs when the body has trouble processing galactose, a type of simple sugar. Many foods have small amounts of galactose. For the most part, it’s a part of lactose, a more common sugar found in many baby formulas and all dairy products. The symptoms occur when the body cannot produce energy using galactose.
What causes the accumulation of galactose in the body?
Galactosemia occurs due to disruptions or changes (mutations) in the GALT gene resulting in deficiency of the GALT enzyme. This leads to abnormal accumulation of galactose-related chemicals in various organs of the body causes the signs and symptoms and physical findings of galactosemia.
What does it mean when baby has galactose in the blood?
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.
What are the three genes that cause galactosemia?
Three types of galactosemia have been identified. They are caused by a mutation in the GALE, GALK1, and GALT genes. These three genes are responsible for making all of the enzymes that are essential for breaking down (metabolizing) galactose.
A galactosemia test is a blood test (from the heel of the infant) or urine test that checks for three enzymes that are needed to change galactose sugar that is found in milk and milk products into glucose, a sugar that the human body uses for energy. A person with galactosemia doesn’t have one of these enzymes.
How is galactose converted to the sugar alcohol galacitol?
Blindness is due to the conversion of circulating galactose to the sugar alcohol galacitol, by an NADPH-dependent aldose reductase that is present in neural tissue and in the lens of the eye. At normal circulating levels of galactose this enzyme activity causes no pathological effects.
How does galactosemia cause cirrhosis of the liver?
Galactosemia. Galactosemia is a rare hereditary disease that can lead to cirrhosis in infants, and early, devastating illness if not diagnosed quickly. This disease is caused by elevated levels of galactose (a sugar in milk) in the blood resulting from a deficiency of the liver enzyme required for its metabolism (breakdown).
What causes elevated galactose levels in the blood?
Galactosemia. This disease is caused by elevated levels of galactose (a sugar in milk) in the blood resulting from a deficiency of the liver enzyme required for its metabolism (breakdown).