Galactosemia

Galactosemia is a disease caused by elevated levels of galactose (a sugar found in dairy products) in the blood resulting from a deficiency of the liver enzyme required for it to be broken down in the digestive tract.

your quick guide to this page

what is galactosemia?: Learn what defines galactosemia and what its general consequences are.
fast facts: Get a quick overview of galactosemia through statistics and bite-sized facts.
symptoms: Learn about the symptoms of galactosemia, how to recognize them, and what to do if you experience them.
lifestyle impacts: Find out how galactosemia impacts your lifestyle.
what can I do?: Discover management and treatment strategies for galactosemia.
additional resources: Find useful links, education, articles, recipes and more that can help with galactosemia.

what is galactosemia?

Galactosemia is a rare inherited disease found in infants. It is caused by elevated levels of galactose in the blood due to a deficiency in an enzyme responsible for breaking down galactose. Galactose buildup results in accumulation of toxic compounds that build up in tissues and can lead to complications such as cirrhosis (liver scarring) if not diagnosed early.

symptoms

Usually there are no symptoms of galactosemia at birth, but symptoms develop shortly after. Some common symptoms of galactosemia include:

Jaundice (yellowing of the skin and whites of the eyes)
Diarrhea and vomiting
Enlargement of the liver
Difficulties gaining weight
Difficulties with speech and motor skills

lifestyle impacts

Galactosemia is a rare condition that could lead to significant lifestyle impacts if left untreated. Individuals with galactosemia may experience difficulties with communication and speech leading to social isolation, depression, and anxiety. Patients may also experience difficulties with short and long-term memory. Although uncommon, some individuals with galactosemia may also experience seizures.

what can I do?

prevention

Since galactosemia is a rare genetic disorder, this disease cannot be prevented.

diagnosis

Majority of infants are diagnosed within the first week after birth through standard newborn blood tests.

treatment

Patients with galactosemia are unable to digest foods that contain lactose and galactose. There currently is no treatment to substitute for missing galactose digestive enzymes but a strict exclusion of lactose and galactose from a patient’s diet will help manage their condition. With a proper diet and regular care, individuals with galactosemia will likely live normal lives.