Next Steps: After Diagnosis

Children and Youth with Special Health Needs (CYSHN)

Duarte Galactosemia

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Condition Information

What is Duarte Galactosemia?
What is the Treatment for Duarte Galactosemia?
How did my baby get Duarte Galactosemia?

Family Support Resources

Where can I get more information?

CONDITION INFORMATION

It is important for you to understand the difference between Duarte galactosemia and Classic galactosemia. As you begin learning about galactosemia, you might read about health problems children with galactosemia can develop. Many of these problems develop ONLY in children with Classic galactosemia. Your child DOES NOT HAVE Classic galactosemia. Your child has Duarte galactosemia, which is NOT associated with the same medical problems as Classic galactosemia.

What is Duarte Galactosemia?

Galactosemia affects a special enzyme needed to break down a sugar that is part of al milk products and several other foods, including breast milk and most formulas. A person with Duarte galactosemia is only missing SOME of the enzyme that breaks down the milk sugar known as galactose. A person with Duarte galactosemia has MORE enzyme than a person with Classic galactosemia.

	Classic	Duarte
Medical Problems if Untreated	Liver failure Infections Bleeding Problems Cognitive impairment Learning problems Cataracts	Usually none. May have learning problems.
Possible Long Term Problems	Speech problems Vision problems Poor growth Learning problems Fertility problems Decreased bone density Tremors/Balance problems	Usually none.

What is the Treatment for Duarte Galactosemia?

Some children with Duarte galactosemia are managed with a special diet low in the milk sugars, lactose and galactose. Often, children are on the diet only for the first year of life. Some children with Duarte galactosemia are not managed with a special diet at all. Your metabolic specialists will work with you to decide if your child should be managed with a special diet.

How did my baby get Duarte Galactosemia?

All types of galactosemia are passed on, or inherited, through instructions in the body called genes. A child gets two copies of all genes in the body, one copy from the mother and the other copy from the father. One of our genes gives the instructions to make the enzyme needed to break down galactose. If a child received two copies of this gene that are not working properly, he or she will have galactosemia.

Duarte galactosemia (DG) is caused when a person inherits either one copy of the Classic galactosemia gene (G) and one copy of the Duarte gene (D), or two copies of the Duarte gene (DD).

If a person inherits a normal copy of the gene (N) and a copy of the Duarte gene (D), then he or she is a carrier for Duarte galactosemia. Carriers are not affected and do not have symptoms of galactosemia, but they can pass on the Duarte gene to their children.

The amount of enzyme a person has depends on the genes that they have. The table below shows the different possibilities.

Genes	Amount of Enzyme	Type of Galactosemia	Treatment
N and N	100%	Unaffected	None
N and D	75%	Duarte galactosemia carrier	None
N and G	50%	Classic galactosemia carrier	None
D and D	50%	Duarte galactosemia	Typically no special diet
D and G	25-50%	Duarte galactosemia	May or may not be treated with special diet
G and G	Less than 5%	Classic galactosemia	Needs special diet

FAMILY SUPPORT RESOURCES

Where can I find more information?

National Library of Medicine Genetics Home Reference: Galactosemia http://ghr.nlm.nih.gov/condition/galactosemia

Galactosemic Families of Minnesota http://www.galactosemia-mn.com/

Parents of Galactosemic Children http://www.galactosemia.org

CLIMB (Children Living with Inherited Metabolic Disorders) http://www.climb.org.uk

For additional genetics information and resources:

Genetic Alliance
http://www.geneticalliance.org

Region 4 Genetics Collaborative
http://www.region4genetics.org/

Partnering with your Doctor The Medical Home Approach: A guide for families with children who have genetic conditions - The Guide is intended to be a user-friendly, hands-on tool to support families of children who have genetic conditions to move forward in obtaining and providing a medical home for their children. The guide provides definitions, examples and tools for families to use when working with the doctor to develop a medical home.

More help available from Children and Youth with Special Health Needs (CYSHN):

We would like to acknowledge the Star G Project. The information on the fact sheet was obtained from the Star G Project. For the most up-to-date information on the disorder please visit their web site at http://www.newbornscreening.info. Each fact sheet was extensively reviewed by family support groups, metabolic specialists across the country and the Star G steering committee.

THIS INFORMATION DOES NOT PROVIDE MEDICAL ADVICE. All content, including text, graphics, images and information are for general informational purposes only. You are encouraged to confer with your doctor or other health care professional with regard to information contained on this information sheet. After reading this information sheet, you are encouraged to review the information carefully with your doctor or other healthcare provider. The Content is not intended to be a substitute for professional medical advice, diagnosis or treatment. NEVER DISREGARD PROFESSIONAL MEDICAL ADVICE, OR DELAY IN SEEKING IT, BECAUSE OF SOMETHING YOU HAVE READ ON THIS INFORMATION SHEET.