Macromo

Galactosemia

AF
Anna Fiserova
September 6, 2023Updated August 13, 2026Reviewed by Konstantin Weiss
Galactosemia

About Galactosemia

Galactosemia is a group of inherited autosomal recessive disorders, resulting from a defect of galactose metabolism (a sugar contained in milk). Symptoms and severity depend on what gene is affected (GALE, GALT, GALK1). The most common and severe is “Classical galactosemia” (GALT gene), diagnosed in newborns. Strict diet needs to be followed.

Recommendations

Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

Recommendations

Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

Sources

We are currently working on preparing a better list of references and studies. It will be ready soon!

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