National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Duarte Galactosemia


This disease is grouped under:
Duarte galactosemia is a mild variant of classic galactosemia, a condition that affects how the body processes galactose (a simple sugar found in milk, dairy products, and other foods). Unlike the other forms of galactosemia, most affected infants do not develop any concerning signs or symptoms even when breastfed or on a galactose-containing formula. Some may develop jaundice, but this symptom typically resolves quickly when the baby is switched to a low-galactose formula. Duarte galactosemia is caused by changes (mutations) in the GALT gene and is inherited in an autosomal recessive manner. People with Duarte galactosemia, specifically, typically have one severe GALT gene mutation and one milder GALT gene mutation, known as the "Duarte variant." Experts disagree regarding the risks and long-term complications of Duarte galactosemia and whether or not dietary interventions are needed. As a result, there is no standard treatment for infants with the condition. Some healthcare providers recommend partial to complete dietary restriction of milk and other high galactose foods for affected infants, but others do not.[1][2][3]
Last updated: 2/1/2016

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Duarte Galactosemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Duarte Galactosemia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Duarte Galactosemia:
    Galactosemia Patient Registry
     

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • DuarteGalactosemia.org is a web site created by a team of scientists, clinicians, and families working together to improve understanding and access to information about Duarte Galactosemia.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Duarte Galactosemia. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Judith L Fridovich-Keil, PhD, Michael J Gambello, MD, PhD, Rani H Singh, PhD, RD, and J Daniel Sharer, PhD. Duarte Variant Galactosemia. GeneReviews. December 2014; http://www.ncbi.nlm.nih.gov/books/NBK258640/.
  2. The Galactosemias. The Galactosemia Foundation. http://www.galactosemia.org/understanding-galactosemia/#Duarte. Accessed 2/1/2016.
  3. Frequently Asked Questions. DuarteGalactosemia.org. http://duartegalactosemia.org/FAQs.html. Accessed 2/1/2016.