Table 4.

Treatment of Manifestations in Individuals with Generalized or Intermediate Epimerase Deficiency Galactosemia

Principle/
Manifestation/
Concern		TreatmentConsiderations/Other
Galactose/lactose-
restricted diet 1 		In infants: switch from breast milk or a milk-based formula to a formula w/trace levels of galactose or lactose (e.g., soy formula).
  • Elemental formula (which is prescribed for infants w/classic galactosemia) should NOT be used. 2
  • The galactose intake needed for optimal outcome remains unknown.
In older children: Dietary restriction involves continued restriction of dairy products.While dietary restriction of high-galactose dairy products is recommended, a diet that restricts non-dairy sources of galactose (legumes, some fruits & vegetables, organ meat) is NOT recommended. 3
Developmental
delay 		See Developmental Delay / Intellectual Disability Management Issues.
Contractures &
clubfoot 		Standard treatment per orthopedist
Poor weight gain /
Failure to thrive 		Feeding therapy
Cataracts Mature cataracts that do not resolve w/dietary restriction of galactose/lactose may require surgical removal.
Hearing loss Hearing aids may be helpful; per otolaryngologist.Community hearing services through early intervention or school district
Family/
Community 		Ensure appropriate social work involvement to connect families w/local resources & support.Consider involvement in adaptive sports or Special Olympics.
1.

Restriction of dietary galactose/lactose appears to correct or prevent the common acute signs and symptoms of the disorder: hepatic dysfunction, renal dysfunction, and mild cataracts. However, it may not correct tissue damage that occurred due to prolonged galactose exposure (e.g., hepatic cirrhosis or mature cataracts) (see Prevention of Primary Manifestations).

2.

Elemental formula should not be prescribed for infants with generalized epimerase deficiency galactosemia because the GALE enzyme is required for the endogenous biosynthesis of UDP-galactose; that is, persons with epimerase deficiency galactosemia may require trace environmental sources of galactose.

3.

Historically, some healthcare providers recommended that individuals with classic galactosemia also abstain from non-dairy foods that contain more than trace levels of galactose/lactose; however, most non-dairy foods have been deemed acceptable for individuals with classic galactosemia [Van Calcar et al 2014].

From: Epimerase Deficiency Galactosemia

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.