Galactosemia


Galactosemia: An inherited disorder of galactose metabolism that occurs in newborns and can result in damage to the liver, brain, kidneys, and other organs in infants due to the accumulation of galactose derivatives in the body. Individuals with galactosemia cannot tolerate any amount of human or animal milk intake. The symptoms of galactosemia resolve if a diet that restricts the intake of galactose and lactose is started during the first 10 days of life. Galactosemia is inherited as an autosomal recessive trait. Galactosemia is due to deficient activity of the enzyme galactose-phosphate uridyltransferase (GALT). Molecular testing for the gene that produces GALT permits carrier detection, genetic counseling, and prenatal diagnosis.

Read Also:

  • Galen

    Galen: Greek physician and philosopher (born about 129 AD, died about 210 AD) known among other things for his discovery of blood in human arteries and for his dissection of the human cranial nerves, the nerves that supply key areas of the head, face, and upper chest. The son of Nicon, a well-to-do architect and […]

  • Galeophobia

    Galeophobia: An abnormally large and persistent fear of sharks. Sufferers from this phobia experience anxiety even though they may be safe on a boat or in an aquarium or on a beach. Hollywood films depicting sharks as calculating, vengeful diabolical monsters have no doubt enkindled the fear of sharks in many persons. So have validated […]

  • Gallbladder

    Gallbladder: A pear-shaped organ located below the liver that stores the bile secreted by the liver. During and after a fatty meal, the gallbladder contracts, delivering the bile through the bile ducts into the intestines to help with digestion.

  • Gallbladder absence

    Gallbladder absence: This condition, also known as agenesis (failure of development) of the gallbladder, occurs in approximately one out of every 1,000 people. Gallbladder agenesis is an isolated abnormality in more than two-thirds (70%) of people with agenesis. The person with isolated agenesis of the gallbladder is healthy. No treatment is needed. The prognosis (outlook) […]

  • Gallbladder agenesis

    Gallbladder agenesis: This is a condition in which the gallbladder fails to develop. This happens in approximately one out of every 1,000 people. Gallbladder agenesis is an isolated finding in more than two-thirds (70%) of people. The person with isolated gallbladder agenesis is healthy. No treatment is needed, and the prognosis (outlook) is excellent. Gallbladder […]


Disclaimer: Galactosemia definition / meaning should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional. All content on this website is for informational purposes only.