1 of 7

Genetic Disease Presentation

Topic:

Galactosemia

2 of 7

The mode of Inheritance

  • Galactosemia has an autosomal recessive inheritance pattern.
  • The parents of a child with galactosemia are unaffected because it is an autosomal recessive condition.
  • One normal gene and one defective gene are found in healthy carriers of the disease.

​

3 of 7

Description of the Disease

  • Symptoms of the disease are Convulsions,Irritability,Lethargy,Poor feeding ,Poor weight gain,Yellow skin and whites of the eyes (jaundice),Vomiting.
  • Affected babies acquire cataracts, although there are minimal long-term consequences.
  • Cataracts, delayed growth and development, intellectual incapacity, liver illness, and kidney difficulties are among the signs and symptoms of galactosemia type III, which range from mild to severe.

​

​

4 of 7

What it is like to have Galactosemia

  • Galactosemia is a condition in which the simple sugar galactose cannot be properly broken down.
  • Lactose, the sugar found in milk, is made up of half galactose and half galactose.
  • When an infant with galactosemia is given milk, galactose-derived chemicals accumulate in the infant's system. The liver, brain, kidneys, and eyes are all affected by these toxins.

​

5 of 7

Treatment Or Cure

  • Galactosemia has no treatment or approved medication to replace the enzymes.
  • Children are put on a specific galactose-free diet for the remainder of their life, avoiding all milk and milk-containing goods as much as possible.
  • Children can still suffer problems like speech delays, learning challenges, and reproductive disorders in some circumstances.

​

​

6 of 7

Three interesting Facts about Galactosemia

  1. Galactosemia was "found" for the first time in 1908. Von Ruess described a breast-fed newborn with failure to thrive, enlargement of the liver and spleen, and "galactosuria" in his 1908 paper "Sugar Excretion in Infancy."

​

  1. With a galactose-restricted diet patients have a normal life expectancy.

​

  1. Galactosemia is more common among those who have Irish ancestry and among people of African descent living in the Americas.

7 of 7