Galactose Epimerase Deficiency
Common Name(s)
Galactose Epimerase Deficiency, UDPglucose-4-epimerase deficiency, Galactoepimerase deficiency
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Galactose Epimerase Deficiency" for support, advocacy or research.
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Galactose Epimerase Deficiency" for support, advocacy or research.
Recommended Apps
Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.
Finding the right clinical trial for Galactose Epimerase Deficiency can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Scientific Literature
Articles from the PubMed Database
Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Galactose Epimerase Deficiency" returned 8 free, full-text research articles on human participants.
First 3 results:
Journal: Gene. 2013 Sep;526(2):318-24.
UDP-galactose 4'-epimerase (GALE) catalyzes the interconversion of UDP-galactose and UDP-glucose, an important step in galactose catabolism. Type III galactosemia, an inherited metabolic disease, is associated with mutations in human GALE. The V94M mutation has been associated with ...
Journal: J. Biol. Chem.. 2001 Jun;276(23):20617-23.
Galactosemia is an inherited disorder characterized by an inability to metabolize galactose. Although classical galactosemia results from impairment of the second enzyme of the Leloir pathway, namely galactose-1-phosphate uridylyltransferase, alternate forms of the disorder can occur ...
Journal: Arch. Dis. Child.. 1999 Apr;80(4):374-6.
The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was similar to classic galactosaemia. ...
To view other free, full-text articles on human participants, please click on the link below.
Reviews from the PubMed Database
Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Galactose Epimerase Deficiency" returned 0 free, full-text review articles on human participants.
No free, full-text review articles on human participants are available at this time. Please click this link to visit the PubMed website for results on "Galactose Epimerase Deficiency".
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/condition/galactosemia
https://ghr.nlm.nih.gov/gene/GALK1
https://ghr.nlm.nih.gov/condition/glucose-galactose-malabsorption
https://ghr.nlm.nih.gov/gene/GALT
https://ghr.nlm.nih.gov/gene/MCEE
https://ghr.nlm.nih.gov/gene/B3GALT6
https://ghr.nlm.nih.gov/gene/SLC5A1
https://ghr.nlm.nih.gov/gene/B4GALT1
https://ghr.nlm.nih.gov/gene/B3GALNT1
https://ghr.nlm.nih.gov/gene/B4GALT7
https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia
https://ghr.nlm.nih.gov/gene/LCT
https://ghr.nlm.nih.gov/gene/SLC35A2
https://ghr.nlm.nih.gov/gene/A4GALT
https://ghr.nlm.nih.gov/gene/H6PD
https://ghr.nlm.nih.gov/gene/ST3GAL3
https://ghr.nlm.nih.gov/gene/GNE
https://ghr.nlm.nih.gov/condition/transcobalamin-deficiency
https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria
Clinical Trial Information This information is provided by ClinicalTrials.gov
There are currently no open clinical trials for this condition.

Finding the right clinical trial for Galactose Epimerase Deficiency can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.