Galactose Epimerase Deficiency

Background and History: 

This is one of three rare disorders in which the breakdown of a sugar molecule, galactose, is defective resulting in disease.  Clinical symptoms in this disorder, however, are highly variable.

Clinical Correlations: 

Some patients with this form of galactosemia have few symptoms and develop normally.  Others, however, can have severe disease resulting in cataracts, liver disease, mental retardation and a general failure to thrive.  Vomiting, jaundice, and seizures may be seen in the neonatal period.  Such infants can be especially susceptible to bacterial infections, especially from E. coli.


This is an autosomal recessive disorder which requires the presence of two mutations for the disease to appear.  Each normal parent, called a carrier, contributes one mutation and they have a risk of 25% during each pregnancy to have another affected child.  The mutant gene, called GALE, does not make normal levels of the enzyme product needed to metabolize galactose.

Diagnosis and Prognosis: 

Early diagnosis is extremely important for treatment with a diet low in content of galactose is therapeutic.  Usually the diagnosis is made shortly after birth when red blood cell analysis reveals a low level of the specific enzyme.

Additional Information