Galaktosamiinia

Galaktosamiinia is a rare, autosomal recessive genetic disorder characterized by the body's inability to properly metabolize certain sugars, specifically galactose and its derivative, galactosamine. The condition is caused by mutations in the *GALT* gene, which encodes the enzyme galactose-1-phosphate uridylyltransferase (GALT). This enzyme is crucial for converting galactose into glucose-1-phosphate, a process essential for energy production and the synthesis of important biological molecules.

Symptoms of galaktosamiinia typically appear within the first few weeks of life and can include jaundice, vomiting, diarrhea, failure to thrive, cataracts, and liver dysfunction. Untreated, the condition can lead to severe complications such as liver failure, intellectual disability, and developmental delays. Some individuals may also experience neurological issues, including seizures or hypotonia (low muscle tone).

Diagnosis is often confirmed through biochemical tests, including measurement of GALT enzyme activity in red blood cells or genetic testing to identify mutations in the *GALT* gene. Newborn screening programs in some regions can detect elevated galactose levels, aiding in early diagnosis.

Treatment primarily involves a strict galactose-restricted diet, eliminating milk and dairy products, as well as certain foods containing lactose or galactose. In severe cases, liver transplantation may be considered if the condition progresses to liver failure. Early intervention and adherence to dietary restrictions significantly improve long-term outcomes, allowing affected individuals to lead relatively normal lives with proper management.

While galaktosamiinia shares similarities with classic galactosemia, it is generally less severe. Research continues to explore potential enzyme replacement therapies or gene therapy as long-term treatment options. Genetic counseling is recommended for families with a history of the disorder to assess recurrence risks in future pregnancies.