Galactosemia
Galactosemia is a rare genetic metabolic disorder that affects the body's ability to metabolize galactose, a type of sugar found in milk and dairy products. This condition is caused by a deficiency in one of the enzymes needed to break down galactose, leading to a buildup of the sugar in the body.
Individuals with galactosemia may experience symptoms such as jaundice, poor feeding, vomiting, and failure to thrive in infancy. If left untreated, galactosemia can lead to serious complications such as liver damage, kidney failure, and cognitive impairments.
Treatment for galactosemia typically involves following a strict diet that eliminates galactose-containing foods, such as milk, cheese, and yogurt. It is important for individuals with galactosemia to work closely with a healthcare provider and a registered dietitian to ensure they are receiving the necessary nutrients while avoiding galactose.
Early detection and management of galactosemia are essential in order to prevent long-term complications and improve quality of life for individuals with this condition.