Disorder Name: Duarte galactosemia
Acronym: DG deficiency
- What is Duarte galactosemia?
- What causes Duarte galactosemia?
- If Duarte galactosemia is not treated, what problems occur?
- What is the treatment for Duarte galactosemia?
- What happens when Duarte galactosemia is treated?
- What causes the GALT enzyme to be absent or not working correctly?
- How is Duarte galactosemia inherited?
- Is genetic testing available?
- What other testing is available?
- Can you test during a future pregnancy?
- Can other members of the family have Duarte galactosemia or be carriers?
- Can other family members be tested?
- How many people have Duarte galactosemia?
- Does Duarte galactosemia happen more often in a certain ethnic group?
- Does Duarte galactosemia go by any other names?
- Where can I find more information?
This fact sheet has general information about Duarte galactosemia (DG). New research has shown that most children with Duarte galactosemia never have any symptoms. There is no standard recommended treatment at this time. All children with Duarte galactosemia should be followed by a healthcare provider. Most children with Duarte galactosemia are discovered to have this condition by A screening test that looks for different disorders using a small sample of blood taken from a newborn’s heel. A positive or abnormal newborn screening result means that there are slight differences that were found in the baby’s blood, and further testing is needed to figure out if the baby has a metabolic disorder. for other more serious forms of galactosemia.
Classic galactosemia is a separate disorder from Duarte galactosemia. This factsheet is not intended to provide information about classic galactosemia. A factsheet on classic galactosemia can be found here.
WHAT IS DUARTE GALACTOSEMIA?
Duarte galactosemia is a specific type of galactosemia. Galactosemias are a group of rare Acquiring a trait from one’s parents. Most traits, such as eye color or hair color, are inherited from a parent through genes. conditions. Galactosemia means “This is one of the types of sugar molecules that make up lactose, the main type of sugar in milk and all products that contain milk. Galactose is found in milk and all milk products such as cottage cheese, yogurt, ice cream, buttermilk, and cheese. Galactose is also in sugar beets and a few other fruits and vegetables. It is also found in fillers used in some packaged foods and some medications.The milk sugar lactose is broken down in the digestive tract into two smaller sugars, galactose and glucose. Galactose is then changed into glucose so it can be used as fuel for the body. Galactose is also made by the body. in the blood.” People with Duarte galactosemia digest a type of sugar called galactose more slowly. Galactose is found in milk and all foods that contain milk. Because they may not be able to break galactose down efficiently, it can build up in their blood. However, most babies with newborn screening results showing Duarte galactosemia never have symptoms.
WHAT CAUSES DUARTE GALACTOSEMIA?
In order for the body to use different types of This is one of the three types of nutrients in food (carbohydrates, fats, proteins). Sugars and starches are the most important types of carbohydrates. They are broken down by the body into glucose, the main source of energy for the body. Carbohydrates are found in foods such as: bread, cereal, pasta, grains, fruits and vegetables. Milk and dairy products, fruit drinks, sugar, candy, and sweet desserts also contain carbohydrates. and sugars from the food we eat, special enzymes break them down into a smaller sugar called This is a type of sugar made from the carbohydrates in food. Glucose is found in the blood. It is the main source of energy for the body and brain., which the body uses for fuel.
Lactose, also called ‘milk sugar,’ is the main type of sugar found in milk and milk products. It is made of one molecule of galactose and one molecule of glucose. Thus, all lactose, and all milk and milk products, contain galactose. During digestion, lactose is broken down to galactose and glucose. Then galactose is further changed by the body into glucose so it can be used as energy.
Duarte galactosemia occurs when an enzyme, called ‘galactose-1-phosphate uridyl transferase’ (GALT), is not working properly. This enzyme’s job is to change galactose into glucose. When the GALT enzyme is not working properly, galactose cannot be changed to glucose efficiently and galactose may build up in the blood. The decision of whether or not to treat someone with Duarte galactosemia depends, in part, on the level of galactose in the blood.
Types of Galactosemia
There are different types of galactosemia.
- Classic galactosemia is a rare, serious, life-threatening disorder.
- Duarte galactosemia is more common and usually causes no symptoms.
New research has shown that people with Duarte galactosemia do not develop symptoms related to this condition and may not need treatment. Your healthcare provider will help decide how to manage your child’s Duarte galactosemia.
Classic galactosemia occurs when babies have no or very small amounts of the GALT enzyme. Babies start showing health effects within days of feeding on breast milk or milk-containing formulas. Virtually all cases of classic galactosemia can be detected by newborn The process of testing for disease in a person who does not show signs of having the disease (nonsymptomatic or asymptomatic person). The goal of screening is to catch the disease in its early stages.. This factsheet provides more information on classic galactosemia.
Duarte galactosemia is a more common form of galactosemia that is often, but not always, detected during newborn screening. Duarte galactosemia occurs when babies have smaller amounts of and less efficient forms of the GALT enzyme. Because they have some functioning GALT enzyme, babies with Duarte galactosemia break down galactose slower than other babies. Babies with Duarte galactosemia may need less treatment or no treatment at all. Deoxyribonucleic acid (DNA) is a molecule found in the chromosomes that carries genetic information. DNA is composed of four units (called bases) that are designated A, T, G, and C. The sequence of the bases spell out instructions for making all of the proteins needed by an organism. A gene is a section of DNA that holds the instructions for a specific protein. A change in one or more of the DNA bases making up a gene is called a mutation. Some mutations change the protein instructions and can lead to particular health problems or disorders. Each parent passes half of their chromosomes, and thus half of their DNA instructions, onto their children. It is these instructions that cause certain traits, such as eye or hair color, to be inherited. testing, described below, and other blood tests can help determine if your baby has classic or Duarte galactosemia.
IF DUARTE GALACTOSEMIA IS NOT TREATED, WHAT PROBLEMS OCCUR?
Most children with Duarte galactosemia have no symptoms at all and most do not need treatment. New research studies have shown that children with Duarte galactosemia are not at increased risk to have developmental problems related to their intake of galactose. Based on the findings of these studies, healthcare providers are re-evaluating if, and how, they should treat infants with Duarte galactosemia. Your metabolic specialist will help you determine if your child needs treatment. Children with Duarte galactosemia may develop This is a yellow color to the skin and whites of the eyes. It is often a sign of liver damage. in the newborn period. Jaundice is a common problem in newborn babies and usually resolves over time. Girls with Duarte galactosemia are not known to have This is a condition in which the ovaries stop working too early (earlier than age 40). This causes the menstrual periods to stop. It is found only in about 1% of all women. It is sometimes caused by diabetes, other hormone disorders, autoimmune disorders, and can be a result of cancer treatments or other medications. It often occurs in women with galactosemia. Symptoms include hot flashes, mood swings, night sweats, vaginal dryness and infertility. which can be seen in girls with classic galactosemia.
WHAT IS THE TREATMENT FOR DUARTE GALACTOSEMIA?
Your baby’s primary doctor will work with a This is a doctor or medical geneticist who has special training in diagnosing and treating metabolic disorders. They often work in university hospitals or large medical centers. and a This is a person with special training in food and nutrition. A registered dietician (RD) has met the necessary educational requirements and has passed a national examination. If your child has a metabolic disorder, it is important for you to work with a registered dietician. They help create healthy food plans for people with metabolic disorders or other special needs. familiar with Duarte galactosemia to care for your child. Children with mild Duarte galactosemia will probably not need treatment. Babies and young children with Duarte galactosemia may need regular blood and urine tests. The test results will help your doctors and dietitian determine if treatment is necessary. Your metabolic doctor and dietitian will let you know if your child needs to avoid lactose and galactose. If so, they will give you a special food plan designed to keep your child healthy.
Treatment, if needed, consists of the use of a special lactose-free formula and/or a lactose and galactose free diet. The special food plan, if used, is only during the first year of life because children with Duarte galactosemia develop an increased tolerance for dietary galactose as they grow.
WHAT HAPPENS WHEN DUARTE GALACTOSEMIA IS TREATED?
Because most individuals with Duarte galactosemia never develop symptoms because of this condition, it is unclear if there is a benefit to early treatment. Children with Duarte galactosemia, regardless of whether they are treated or not, are able to live healthy lives with typical growth and development.
WHAT CAUSES THE GALT ENZYME TO BE ABSENT OR NOT WORKING CORRECTLY?
Genes tell the body how to make A molecule that helps chemical reactions take place. For example, enzymes in the stomach speed up the process of breaking down food. Each enzyme can participate in many chemical reactions without changing or being used up.. The GALT gene instructs the body to make the GALT enzyme. Everyone has two copies of the GALT gene. People with Duarte galactosemia have changes, also called A variant is a change or alteration in a person’s DNA sequence. Variants can happen in genes and affect how the gene functions. There are different types of variants – they can be non-problem causing (benign), disease-causing (pathogenic) or of unknown significance. The term variants is now used in place of the term mutation., in both copies of their GALT A segment of DNA that contains the instructions to make a specific protein (or part of a protein). Genes are contained on chromosomes. Chromosomes, and the genes on those chromosomes, are passed on from parent to child. Errors in the DNA that make up a gene are called variants and can lead to diseases.. Because of the variants in the GALT genes, the GALT enzyme works more slowly than normal.
HOW IS DUARTE GALACTOSEMIA INHERITED?
Duarte galactosemia is inherited in an autosomal recessive manner. It affects both boys and girls equally.
Everyone has two copies of the GALT gene, one inherited from each parent, that make the GALT enzyme. In children with Duarte galactosemia, neither of their GALT genes works correctly. There are two types of non-working genes in Duarte galactosemia. One is very mild, called “D” for “Duarte variant.” The other is called “G” and is a more serious variant. A child with Duarte galactosemia has either two copies of the mild “D” variant, or one copy of the mild “D” variant and one copy of the “G” variant. Because they have the mild “D” variant, children with Duarte galactosemia have GALT enzymes that works slower than usual.
Parents of children with Duarte galactosemia rarely have the condition themselves. Instead, each parent has a single non-working GALT gene for Duarte galactosemia. They are called A person who has one copy of a gene mutation for a particular autosomal recessive disorder (remember genes come in pairs). Carriers are not affected by the disorder. However, they can pass on the gene variant to their children. Children who inherit two such gene variants will be affected by the disorder. The term variants is now used in place of the term mutation.. Carriers do not have Duarte galactosemia because their other gene is working correctly. Without testing the parents, it is not possible to know which variant, D or G, each parent carries.
When both parents are carriers, there is a 25% chance in each pregnancy for the child to have Duarte galactosemia. There is a 50% chance for the child to be a carrier, just like the parents. And, there is a 25% chance for the child to have two working genes.
Relating to (or due to) genes and heredity or the field of studying genes and heredity. counseling is available to families who have children with Duarte galactosemia. Genetic counselors can answer your questions about how Duarte galactosemia is inherited, choices during future pregnancies, and how to test other family members. Ask your doctor about a referral to a These are health care providers who have special training in genetic conditions. They help families understand genetic disorders and how they are passed down. Genetic counselors offer information and support to people who have genetic conditions in their families or are concerned that they may have a child with an inherited disorder..
IS GENETIC TESTING AVAILABLE?
Genetic testing for Duarte galactosemia can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes (variants) in the pair of genes that causes Duarte galactosemia. Over 99% of the time, DNA testing can identify both gene variants in a child with this condition.
DNA testing is not necessary to diagnose your child. However, it may be helpful in determining what type of Duarte galactosemia your child has.
DNA testing can also be helpful for carrier or prenatal testing, discussed below.
WHAT OTHER TESTING IS AVAILABLE?
If your child has had a positive newborn screen for Duarte galactosemia, other tests still need to be done in order to confirm the diagnosis. One of these special tests detects the amount of GALT enzyme present in Red blood cells are the major component in blood that delivers oxygen from the lungs to the body tissues. and is often used to confirm Duarte galactosemia.
Ask your doctor if you have any questions about testing for Duarte galactosemia.
CAN YOU TEST DURING A FUTURE PREGNANCY?
If both gene changes have been found in your child with Duarte galactosemia, DNA testing can be done during any future pregnancies. However, prenatal testing is rarely done for Duarte galactosemia because symptoms, if any, are mild. If you have questions about prenatal testing, ask your genetic counselor or physician. Parents may choose to have testing during pregnancy or wait until birth to have the baby tested. A genetic counselor can talk to you about your choices and answer questions about prenatal testing or testing your baby after birth.
CAN OTHER MEMBERS OF THE FAMILY HAVE DUARTE GALACTOSEMIA OR BE CARRIERS?
Having Duarte galactosemia
The brothers and sisters of a baby with Duarte galactosemia have a chance of also having Duarte galactosemia. Ask your metabolic doctor whether your other children should be tested.
Duarte galactosemia carriers
Brothers and sisters who do not have Duarte galactosemia still have a 2/3rds chance to be carriers like their parents. Except in special cases, carrier testing should only be done in people over 18 years of age.
If you are a parent of a child with Duarte galactosemia, your brothers and sisters have a 50% chance to be a carrier. Because some of the GALT gene variants that cause Duarte galactosemia can also cause classic galactosemia (more serious disease), it is important for other family members to be told that they could be carriers. There is a small chance they are also at risk to have children with classic galactosemia or Duarte galactosemia depending on which gene change they carry.
All 50 US states offer newborn screening for classic galactosemia. Newborns with Duarte variant galactosemia may or may not be detected by the same newborn screening test that detects classic galactosemia. Specifically, some newborn screening protocols are designed to detect Duarte variant galactosemia, while others do not. In families in which a child has Duarte galactosemia, newborn screening results are not sufficient to rule out this condition in future siblings.
CAN OTHER FAMILY MEMBERS BE TESTED?
If there is concern about whether they have Duarte galactosemia, your other children can be tested. Talk to your doctor or genetic counselor if you have questions about testing for Duarte galactosemia.
If both gene changes (variants) have been found in your child, other adult family members can have DNA testing to see if they are carriers.
If DNA testing is not helpful, other methods of carrier testing may be available. If you have questions about carrier testing, ask your genetic counselor or metabolic doctor.
HOW MANY PEOPLE HAVE DUARTE GALACTOSEMIA?
About one in every 3,000 to 6,000 babies in the United States is born with Duarte galactosemia.
DOES DUARTE GALACTOSEMIA HAPPEN MORE OFTEN IN A CERTAIN ETHNIC GROUP?
Duarte galactosemia occurs in people of all ethnic groups around the world. It is more common among infants of European ancestry and less common among infants of African, African American, or Asian ancestry.
DOES DUARTE GALACTOSEMIA GO BY ANY OTHER NAMES?
Duarte galactosemia is sometimes also called:
- Duarte variant galactosemia
Variants of classic GALT that are not discussed in depth in this fact sheet include:
- Galactokinase deficiency
- UDP-galactose 4-epimerase deficiency (GALE)
- Classic galactosemia
WHERE CAN I FIND MORE INFORMATION?
Baby’s First Test
|Reviewed by:||HI, CA, OR, and WA metabolic specialists|
THIS INFORMATION DOES NOT PROVIDE MEDICAL ADVICE. All content (“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. This project is supported by a grant from the Having to do with the mother. and Child Health Bureau, Health Resources and Service Administration, Genetic Services Branch, MCH Project #:UH7MC30774-01-00 http://mchb.hrsa.gov