galaktokináz

Galaktokináz, also known as GALK, is an enzyme that plays a crucial role in galactose metabolism. It is a transferase enzyme that catalyzes the phosphorylation of galactose to galactose-1-phosphate. This reaction is the first step in the Leloir pathway, the primary route for galactose breakdown in mammals. The enzyme utilizes adenosine triphosphate (ATP) as a phosphate donor, converting it to adenosine diphosphate (ADP).

The gene that encodes for galaktokináz in humans is called GALK1. Mutations in this gene can lead to a rare genetic disorder known as galactokinase deficiency, also referred to as galactokinase deficiency cataract or type II galactosemia. This condition is characterized by the accumulation of galactose in the body, which can lead to the development of cataracts in the eyes. Unlike classic galactosemia (type I), galactokinase deficiency does not typically cause severe intellectual disability or liver damage.

Galaktokináz is found in various tissues throughout the body, with particularly high activity in the liver and red blood cells. Its function is essential for efficiently processing dietary galactose, preventing its buildup to toxic levels. The enzyme's activity is regulated by various factors, ensuring that galactose is metabolized appropriately. Understanding the role and function of galaktokináz is important for diagnosing and managing disorders related to galactose metabolism.