What are the three types of galactosemia?
There are 3 forms of the disease: Galactose-1 phosphate uridyl transferase (GALT) deficiency: Classic galactosemia, the most common and most severe form. Deficiency of galactose kinase (GALK) Deficiency of galactose-6-phosphate epimerase (GALE)
How many types of galactosemia are there?
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.
What is the most common type of galactosemia?
Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth.
What does galactosemia lead to?
Untreated galactosemia can lead to liver damage, kidney failure, and intellectual disabilities.
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).
What are the different types of galactosemia?
The Galactosemias. Galactosemia is a family of genetic disorders that result from compromised ability to metabolize the sugar galactose; the term “galactosemia” literally means too much galactose in the blood. The different types of galactosemia include. Classic and clinical variant galactosemia (aka Type 1 galactosemia)
What are the risk factors for galactosemia?
The risk may depend on the extent of the deficiency. Inheritance of all types of galactosemia is autosomal recessive. The diagnosis may be suspected based on symptoms or results of newborn screening tests, and can be confirmed by measuring enzyme activity and genetic testing.
What is galactosemia and how is it treated?
Galactosemia is a family of genetic disorders that result from compromised ability to metabolize the sugar galactose; the term “galactosemia” literally means too much galactose in the blood.
What are the signs and symptoms of Duarte variant galactosemia?
Patients with Duarte variant galactosemia usually show about 25% the normal level of GALT activity in red blood cells. Newborns with Duarte variant galactosemia may not show any symptoms, such as jaundice, while drinking milk.