galactosedeficiency

Galactosemia is a metabolic disorder that affects an individual's ability to metabolize galactose, a sugar found in lactose, the sugar in milk. This inability is caused by a deficiency in specific enzymes required for breaking down galactose. There are several types of galactosemia, with the most common being classic galactosemia, which results from a deficiency in the enzyme GALT (galactose-1-phosphate uridyltransferase). Other less common forms are due to deficiencies in GALK (galactokinase) or GALE (galactose-4-epimerase).

When galactose cannot be properly metabolized, it builds up in the body, leading to toxic levels. Symptoms can appear shortly after birth in infants who consume milk-based formula or breast milk. These symptoms can include poor feeding, vomiting, diarrhea, jaundice, lethargy, and failure to thrive. If left untreated, galactosemia can lead to severe health problems, including liver damage, kidney damage, intellectual disability, and cataracts.

Diagnosis is typically made through newborn screening programs, which test for elevated galactose levels in the blood. Genetic testing can also confirm the specific enzyme deficiency. The primary treatment for galactosemia is a strict lifelong galactose-free diet. This means avoiding all milk and dairy products, as well as foods containing lactose or galactose. With early diagnosis and adherence to a restricted diet, individuals with galactosemia can lead healthy lives and avoid many of the severe complications associated with the disorder. However, even with treatment, some individuals may still experience developmental delays or other long-term health issues.