Galactokinase deficiency diseases, also known as galactosemia type 2, refer to a group of inherited genetic disorders affecting the body's ability to metabolize galactose, a sugar found in milk and other dairy products. It is caused by a deficiency in the enzyme galactokinase, which is responsible for the initial step in galactose metabolism.
People with galactokinase deficiency are unable to convert galactose into glucose, which is necessary for energy production. As a result, galactose accumulates in the body, leading to a variety of health problems. Symptoms of galactokinase deficiency diseases typically appear in infancy or early childhood, once the newborn starts consuming breast milk or formula containing lactose.
Common symptoms include cataracts, which is clouding of the lens of the eye, leading to impaired vision, as well as increased levels of galactose in the blood and urine. Infants may also experience failure to thrive, poor weight gain, liver dysfunction, and developmental delays. However, the severity of the symptoms can vary among individuals.
Treatment for galactokinase deficiency diseases involves removing galactose and lactose from the diet. This includes avoiding milk, dairy products, and other foods high in lactose. With early diagnosis and proper management, individuals with galactokinase deficiency can lead healthy lives without significant long-term complications.
In summary, galactokinase deficiency diseases are a group of inherited disorders resulting in the impaired metabolism of galactose. It manifests with symptoms such as cataracts, liver dysfunction, and developmental delays. Treatment involves a galactose and lactose-free diet to prevent complications and promote optimal health.
