Galactose Epimerase Deficiency

Common Name(s)

Galactose Epimerase Deficiency, UDPglucose-4-epimerase deficiency, Galactoepimerase deficiency

Galactoepimerase deficiency (GALE) is an inherited condition in which the body is unable to properly break down galactose, a sugar found in all foods that contain milk and in some fruits and vegetables. This condition can cause harmful amounts of undigested sugars to build up in the blood. It occurs most often in African American populations with 1 out of every 6,700 newborns diagnosed with GALE. It is less common in other ethnic groups, affecting about 1 in 70,000 European individuals.There are three forms of GALE (generalized, peripheral, and intermediate). Some of these forms are more severe, while others are milder. Severe forms of GALE can lead to eye problems (cataracts), delayed growth and development, intellectual disabilities, liver disease, kidney problems or even death. However, when GALE is identified through newborn screening and proper treatment is started early, affected children can often lead healthy lives. Treatment for GALE depends on the severity and type, but may include a diet that avoids foods which contain galactose, such as milk. Many babies are screened to see if they may be affected by GALE at birth, but the conditions included in newborn screening vary by state by state. For more information, visit Baby's First Test.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

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.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Go To URL
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

Go To URL
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

Go To URL

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.

 
 
Top

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

Go to URL