Gerard Vockley, MD, PhD, Professor of Pediatrics and Human Genetics at the University of Pittsburgh, provides an overview of galactosemia.
Galactosemia is a rare, metabolic disorder that affects an individual’s ability to metabolize galactose, which is present in dairy products. It is inherited in an autosomal recessive manner. The genetic abnormality involves mutations in the GALT gene that results in the deficiency of the GALT enzyme that breaks down galactose. The toxic metabolites that accumulate in the cells include galactose-1-phophate and galactitol.
Symptoms of galactosemia may include failure to thrive, gastrointestinal problems, hypoglycemia, and liver dysfunction. If left untreated, galactosemia can lead to serious complications such as cataracts, intellectual disability, speech difficulties, and neurological problems.
Strict adherence to a galactose-restricted diet can help manage the symptoms and reduce the risk of complications. However, even with dietary management, some individuals with galactosemia may still experience long-term complications.
For more information about this, and other metabolic disorders, go to checkrare.com/diseases/metabolic-disorders/
