Healthwise

Our Health Library information does not replace the advice of a doctor. Please be advised that this information is made available to assist our patients to learn more about their health. Our providers may not see and/or treat all topics found herein.

Galactosemia

Galactosemia is a rare, inherited genetic condition caused by high levels of galactose in the blood. Galactose is a part of the sugar (lactose) found in dairy products. Galactosemia is caused by a deficiency in one of the three enzymes needed to break down galactose, so it builds to dangerous levels.

A child who has galactosemia appears normal at birth but develops symptoms after taking formula or breast milk. Symptoms of galactosemia include:

  • Loss of appetite.
  • Vomiting.
  • Diarrhea.
  • Poor weight gain.

Without early diagnosis and treatment, a child with galactosemia can develop severe effects. The child may be slow to develop and may have vision problems (cataracts), liver problems, and intellectual disabilities. One form of the disease causes cataracts without intellectual disabilities or poor growth.

Galactosemia is treated with a special diet that does not contain galactose or lactose. A person who has galactosemia must always avoid milk and milk products.

Due to the threat of the COVID-19 (Coronavirus), we are taking precautionary measures to protect our staff and patients. We are implementing a temporary NO VISITOR policy at this time. Only patients or patients and their guardians will be allowed into the office. Please note, this is not to inconvenience anyone! The virus is a very real threat and it is essential that we stay healthy in order to provide needed care for our patients. If you are sick, we ask that you CALL the office to speak with a nurse before you come in. The nurse will provide specific instructions for you. Please DO NOT enter the office if you are sick (upper respiratory symptoms, fever, cough, or flu like symptoms). We are closely monitoring the situation and will update you as circumstances change. Thank you for your understanding!!