Galactosemia

MONDO:0018116

Galactosemia 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, 5 tagged with Galactosemia itself.

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Where it sits in the disease tree

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Part of

↑ Eye disorder (3068) ↑ Disorder of galactose metabolism (5)

Sub-types of Galactosemia

Classic galactosemia 3 trials
Galactokinase deficiency 1 trial
Galactose epimerase deficiency 0 trials
2 sub-types
- Erythrocyte galactose epimerase deficiency 0 trials
- Generalized galactose epimerase deficiency 0 trials
Galactosemia 4 0 trials

Including sub-types (5) Tagged with Galactosemia (5)

Trials to join now! 2 Not yet finished but already full! 1 Completed 2

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Galactosemia

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth