Is Duarte galactosemia rare?

Is Duarte galactosemia rare?

Types of Galactosemia Classic galactosemia is a rare, serious, life-threatening disorder. Duarte galactosemia is more common and usually causes no symptoms.

What are the different types of galactosemia?

There are three main types of galactosemia:

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

What is clinical variant galactosemia?

Clinical variant galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage including cirrhosis, and bleeding in untreated infants. This is exemplified by the disease that occurs in African Americans and native Africans in South Africa.

Can you breastfeed with Duarte galactosemia?

Published in a recent issue of the journal PEDIATRICS, the study found that children with Duarte galactosemia are at no greater risk of long-term developmental abnormalities than their unaffected siblings, regardless of their exposure to milk as infants.

Is Type 1 galactosemia fatal?

Untreated, classic and clinical variant galactosemia are potentially lethal disorders. If an affected infant continues to drink milk the baby may develop symptoms that progress in days from jaundice, vomiting, and diarrhea, to liver disease and failure to thrive, and eventually to E. coli sepsis, which can be fatal.

Which of the following is the rare variant of galactosemia?

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.

What mutations cause 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.

Can you outgrow galactosemia?

Galactosemia is a lifelong condition that children will not outgrow. However, galactosemia can be easily managed by following a galactose-free diet.

Does galactosemia run in families?

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

Is galactosemia more common in one ethnicity?

DOES GALACTOSEMIA HAPPEN MORE OFTEN IN A CERTAIN ETHNIC GROUP? Galactosemia occurs in people of all ethnic groups around the world. It is more common in people from Ireland. One in 24,000 Irish babies is born with this condition.

Is galactosemia more common in males or females?

The disorder appears to be more common in the Caucasian population than in other ethnic groups but figures in other populations may be underestimated. Males and females are equally affected.

How long is the average lifespan of a person 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 you grow out of galactosemia?

Can you live a normal life with galactosemia?

Most children who have galactosemia can have normal lives if they stay away from food and drinks that contain galactose. However, mild symptoms can still occur even if your child avoids foods and drinks that contain the chemical.