Galactosemia
MONDO:0018116Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.
Also known as: galactosemia
5 clinical trials for this condition and its sub-types.
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Broader categories
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Can freezing ovarian tissue help people with turner syndrome or early menopause have kids?
Knowledge-focused Recruiting nowThis study looks at whether freezing ovarian tissue can help preserve fertility in people aged 2-21 with conditions like Turner syndrome, galactosemia, or premature ovarian insufficiency. Participants may have surgery to remove and freeze a gonad, with a small piece used for rese…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 16, 2026 00:00 UTC
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New study aims to unravel puberty and fertility challenges in girls with rare sugar disorder
Knowledge-focused Recruiting nowThis study follows 60 girls and women with classic galactosemia, a rare genetic condition that affects how the body processes sugar. Researchers want to understand why many develop early ovarian failure and how puberty progresses. By tracking hormone levels and growth, they hope …
Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC