Medical information you need to know as an adult with galactosemia
Overview of the Condition:
Galactosemia is a rare metabolic condition in which a chemical called GALT does not work correctly in your body. As a result, you are unable to break down galactose (found in milk and all other dairy products). This causes a sugar called galactose to build up too much in your blood over time. When galactose builds up too much, it can cause serious health problems. You can manage galactosemia throughout your life with a special non-dairy diet and ongoing health care.
Other names for galactosemia are: GALT deficiency or classical galactosemia.
Medical Problems for Babies and Children:
- If galactosemia goes undetected, babies and children may have: tremors or convulsions, yellow skin and whites of the eyes (jaundice), and vomiting.
- Newborns with untreated galactosemia are at increased risk for a life-threatening illness called E. coli septicemia.
- All newborns in the US are now tested for galactosemia. If the condition is identified early and galactose (dairy) is taken out of the baby’s diet, the most serious health problems can be avoided.
Medical Problems for Teens and Young Adults:
- Even with early treatment, many teens and young adults with galactosemia have some difficulty speaking or coming up with the right words to say, and some difficulty quickly understanding and processing what they hear or read.
- Other adult symptoms of galactosemia can include tremors and low bone density.
- Some teens and young adults with galactosemia have shyness, loneliness, anxiety, or depression. Counseling and medication can help. If you have anxiety or depression, it is important to get in touch with your health care provider to get treatment.
How to Minimize Medical Problems and Complications:
- Follow a non-dairy diet recommended by your dietician. This will include avoiding milk and other dairy products. You can replace dairy with soy or rice-based products.
- Check food labels and avoid these ingredients: nonfat dry milk solids, casein, sodium caseinate, whey, whey solids, curds, lactose, or galactose.
- Keep your immunizations up-to-date.
- Stay in regular contact with your health care providers and health specialists.
How to Get Support
- Get education support from teachers and specialists at your school
- Join a support group with people who have galactosemia. The Galactosemia Foundation has very active groups for teens and for adults with galactosemia. http://galactosemia.org/
- A lot of research is being done on galactosemia. Get up-to-date information about new treatments and discoveries at the Galactosemia Foundation website: http://galactosemia.org/
Fertility and Pregnancy:
- Almost all teen girls and women with galactosemia experience a health condition called premature ovarian insufficiency (POI).
- When a woman has POI, her ovaries do not release eggs or hormones in the usual way. She may stop having her periods and may experience hot flashes.
- POI can make some women unable to get pregnant. This is called infertility.
- POI can be treated and some women with galactosemia have been able to have children. It is important for girls who have galactosemia to visit an endocrinologist by the time they are 12 years old.
- Men with galactosemia are able to father children. Their fertility is not affected.
- Galactosemia is a genetic condition. Genetic counseling can help you and your partner understand the risks to your children. Your doctor can refer you to a genetic counselor who has a special understanding of your health issues.
- Pregnant women with galactosemia must follow a careful diet with guidance from a dietician.
- This guide can help you learn more about POI and your fertility: Moving Forward: Your Guide to Galactosemia and Primary Ovarian Insufficiency (POI) – http://newenglandconsortium.org/for-families/galactosemia/galactosemia-and-primary-ovarian-insufficiency-poi/
AAP/AAFP/ACP Transition Clinical Report
Transition Toolkit (New England Consortium of Metabolic Programs)
National Institutes of Health – Genetics Home Reference – Galactosemia
Parents of Galactosemic Children, Inc.
Learn Genetics – Galactosemia
Moving Forward: Your Guide to Galactosemia and Primary Ovarian Insufficiency (POI)
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This Metabolic Condition Basics guide was adapted with permission from the American College of Medical Genetics ACT Sheet