Galaktoosittoman

Galaktoosittoman refers to the absence or severe deficiency of galactose, a monosaccharide sugar. Galactose is a key component of lactose, the sugar found in milk. Inborn errors of galactose metabolism, collectively known as galactosemia, are a group of rare genetic disorders that prevent the body from properly breaking down galactose. The most common and severe form is classic galactosemia, which occurs when an enzyme called GALT (galactose-1-phosphate uridyltransferase) is deficient. Without this enzyme, galactose-1-phosphate accumulates in the body, leading to toxic effects on organs such as the liver, brain, eyes, and kidneys.

Individuals with untreated classic galactosemia can develop serious symptoms shortly after birth, including poor feeding, vomiting, lethargy, jaundice, and failure to thrive. If not identified and treated early, it can lead to intellectual disability, liver disease, cataracts, and even death. Management of galactosemia involves a strict lactose-free and galactose-free diet, meaning avoiding all dairy products and other foods containing galactose. Dietary restrictions must be maintained throughout life. Other, less common forms of galactosemia involve deficiencies in different enzymes within the galactose metabolic pathway, with varying degrees of severity. Newborn screening programs in many countries help identify infants with galactosemia early, allowing for prompt treatment and improved outcomes.