Journal de l'obésité et du métabolisme

Abstrait

Racial and Ethnic Variety of Exemplary and Clinical Variation Galactosemia in the USA

David J Cutler

Galactosemia is a rare genetic disorder that affects the body’s ability to metabolize galactose, a type of sugar found in milk and other dairy products. It is caused by a deficiency of certain enzymes necessary for the breakdown of galactose, resulting in its accumulation in the body.

Infants with galactosemia typically present with symptoms shortly after birth, as they are unable to digest galactose properly. These symptoms may include poor feeding, vomiting, diarrhea, jaundice, and failure to thrive. If left untreated, galactosemia can lead to severe complications, such as liver damage, kidney problems, cataracts, intellectual disability, and developmental delays.

The primary treatment for galactosemia is a strict galactose-free diet. This involves eliminating all sources of galactose and lactose (the sugar formed by galactose and glucose) from the individual’s diet. Infants with galactosemia are typically fed with specialized formulas that do not contain lactose or galactose. As they grow older, they must continue to avoid foods containing galactose, lactose, and certain by-products that may contain these sugars.

Early diagnosis through newborn screening programs is crucial for the management of galactosemia. Once identified, dietary modifications should be implemented promptly to prevent the development of complications. Genetic counseling is also recommended for families with a history of galactosemia, as the condition is inherited in an autosomal recessive manner.

While galactosemia cannot be cured, with proper management and adherence to a galactose-free diet, individuals with the condition can lead relatively normal lives. Regular monitoring, including blood tests and clinical evaluations, is necessary to assess the effectiveness of the diet and to detect any potential complications early on. Ongoing research aims to improve the understanding of galactosemia and develop new treatments that may further enhance the quality of life for affected individuals.