Learn About Classic Galactosemia

Condition 101 content is not available at this time, but we are continually updating the site. Please check back.

However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.

Who are the top Classic Galactosemia Local Doctors?
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What are the Latest Advances for Classic Galactosemia?
β-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency.
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Replacement of breastfeeding with medical food for the treatment of galactosemia and phenylketonuria: maternal stress.
What are the latest Classic Galactosemia Clinical Trials?
Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction and Premature Ovarian Insufficiency

Background: Turner Syndrome, galactosemia, and premature ovarian insufficiency are all conditions that may make it very hard or impossible for a person to become pregnant and have their own child. Researchers want to learn more about why this happens and if freezing ovarian tissue allows for fertility preservation.

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An Open-Label Study to Evaluate the Long-Term Safety and Pharmacodynamic Efficacy of AT-007 in Adult Subjects With Classic Galactosemia (CG)

Summary: This study is a 12-month open-label extension (OLE) study of AT-007 in adult subjects with CG who previously participated in Study AT-007-1001 Part D and/or Part D Extension. The study is designed to assess the long-term safety of AT-007 in subjects with CG as well as the pharmacodynamics (PD) (inhibition of galactitol) and PK of AT-007. The effect of 12-month treatment with AT-007 on the levels o...