Galactose Epimerase Deficiency

Common Name(s)

Galactose Epimerase Deficiency, UDPglucose-4-epimerase deficiency

Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells ({6:Gitzelmann, 1972}). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts ({11:Holton et al., 1981}). This form was designated 'generalized' epimerase deficiency. {19:Openo et al. (2006)} demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder. GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia ({230400}), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT; {606999}). Galactosemia II ({230200}) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK; {604313}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Galactose Epimerase Deficiency" for support, advocacy or research.

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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 7 free, full-text research articles on human participants. First 3 results:

Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.
 

Author(s): J B Thoden, T M Wohlers, J L Fridovich-Keil, H M Holden

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 ...

Last Updated: 4 Jun 2001

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Generalised uridine diphosphate galactose-4-epimerase deficiency.
 

Author(s): J H Walter, R E Roberts, G T Besley, J E Wraith, M A Cleary, J B Holton, R MacFaul

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. ...

Last Updated: 14 Oct 1999

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Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
 

Author(s): T M Wohlers, N C Christacos, M T Harreman, J L Fridovich-Keil

Journal: Am. J. Hum. Genet.. 1999 Feb;64(2):462-70.

 

Epimerase-deficiency galactosemia results from impairment of the human enzyme UDP-galactose-4-epimerase (hGALE). We and others have identified substitution mutations in the hGALE alleles of patients with the clinically mild, peripheral form of epimerase deficiency. We report here ...

Last Updated: 13 Apr 1999

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Reviews from the PubMed Database

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The terms "Galactose Epimerase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pregnancy Chances in Classic Galactosemia
 

Status: Recruiting

Condition Summary: Galactosemias; Primary Ovarian Insufficiency

 

Last Updated: 17 Mar 2014

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