Galactokinase deficiency disease, also referred to as galactokinase deficiency, is a rare inherited metabolic disorder that affects the body's ability to break down galactose, a sugar found in milk and other dairy products. This condition is caused by mutations in the GALK1 gene, which provides instructions for producing the galactokinase enzyme.
Galactokinase is responsible for converting galactose into galactose-1-phosphate, which can be further metabolized by other enzymes. However, individuals with galactokinase deficiency have reduced or absent galactokinase activity, leading to a buildup of galactose in the body.
Symptoms of this disorder typically manifest during infancy or early childhood after the introduction of breast milk or formula. Common signs include jaundice, an enlarged liver, cataracts (clouding of the lens in the eye), and potentially intellectual disability. However, some individuals may also remain asymptomatic.
If left untreated, galactokinase deficiency disease can result in long-term complications, such as liver damage, kidney problems, and developmental delays. To manage this condition, affected individuals must follow a strict galactose-restricted diet, avoiding galactose-containing foods and formula.
Early detection through newborn screening programs can enable the timely initiation of dietary modifications, which is crucial to prevent or minimize the development of symptoms. Lifelong dietary control and regular medical monitoring are essential to ensure optimal health and prevent complications associated with this genetic disorder.
