- What is galactosemia?
- What causes galactosemia?
- Different types of galactosemia
- How common is galactosemia?
- What are the symptoms of galactosemia?
- What are the severe symptoms and complications of galactosemia?
- How is galactosemia diagnosed?
- How is galactosemia treated?
- How to manage galactosemia?
- What foods to limit or avoid in galactosemia?
- How to prevent galactosemia?
- Frequently asked questions
Galactosemia is a rare condition that affects the infant’s ability to consume and digest several food items, including milk. Milk and milk-based products are among the significant sources of nourishment for a baby but galactosemia can make it difficult for you to give the baby that nourishment.
What Is Galactosemia?
Galactosemia is a rare genetic disorder where the body is unable to digest a sugar called galactose. Galactose is a version of lactose, a type of sugar found in milk and all types of dairy products including milk-based baby formula and other baby foods that contain milk (1). Galactose is also found in vegetables, legumes, and meat.
What Causes Galactosemia?
Galactosemia means “galactose in the blood.” The fundamental cause of galactosemia is defective genes. A baby that receives a faulty gene from both the parents can develop galactosemia and have a deficiency of an enzyme that processes galactose. The most common deficiency is of the enzyme galactose-1-phosphate uridyl transferase (GALT) that the liver produces.
GALT is necessary for conversion of galactose to a simpler sugar called glucose, which the body can absorb readily. The absence of GALT causes an accumulation of galactose within the body.
[ Read: Loss Of Appetite In Babies ]
Different Types Of Galactosemia
Yes. There are three types of galactosemia (2):
- Type I galactosemia, also called classic galactosemia, is the most common and most severe form of galactosemia. People with this have a deficiency of galactose-1-phosphate uridyl transferase (GALT), which converts galactose into glucose. The symptoms are most profound and cause a lasting impact on the health of the individual. A less severe version of type 1 galactosemia is Duarte variant galactosemia, where the person only has a small deficiency of GALT.
- Type II galactosemia, or galactokinase deficiency, is due to a different problematic gene that causes a deficiency of the enzyme called galactokinase (GALK). GALK also plays a role in the metabolic pathway to break galactose. The lack of GALK also leads to galactosemia. There are fewer symptoms and problems when compared to type 1 galactosemia. There are also lesser long-term complications.
- Type III galactosemia is also called galactose epimerase deficiency. People with this condition are short of the enzyme called UDP-galactose 4’-epimerase (GALE), which is essential for converting galactose into glucose. There are several categories of GALE deficiencies depending on the severity of the enzyme deficiency. The symptoms can be very mild to as severe as those in type 1.
While each type of galactosemia brings a deficiency of a unique enzyme, they all lead to problems with the metabolism of galactose, or galactosemia.
How Common Is Galactosemia?
Galactosemia is a rare disorder that affects one in 16,000-48,000 individuals around the world, although the statistics vary (3). According to the United States National Library of Medicine, type 1 galactosemia affects one in 30,000-60,000 individuals. Type 2 galactosemia affects one in 100,000 births. Type 3 is extremely rare. The disorder is noticed in people of all ethnic groups and ancestry (1).
[ Read: Symptoms Of Jaundice In Newborn Baby ]
What Are The Symptoms Of Galactosemia?
A baby born with galactosemia will appear normal at birth. The following are the symptoms that emerge a few days or weeks after birth:
- The baby will experience loss of appetite and show an abrupt disinterest in feeding.
- The baby will vomit what they eat with no other apparent symptoms.
- Diarrhea and abdominal discomfort.
- Irritability, lethargy, and lack of energy.
- Development of jaundice. It is noticeable through the yellowing of the skin and white of the eyes.
Since the signs and symptoms mentioned above are general, parents may not suspect galactosemia. But the baby could develop other specific, severe signs that could indicate suffering.
What Are The Severe Symptoms And Complications Of Galactosemia?
Galactosemia can rapidly transform into acute symptoms and complications such as:
- Anorexia, which is a rapid weight loss due to the inability to eat. The baby displays general muscle wasting.
- Ascites, or an accumulation of fluids within the abdominal cavity. It causes the baby’s stomach to bloat even if they have not eaten and are malnourished.
- Hepatomegaly or enlargement of the liver.
- Cataracts in the eye, which impair vision.
- Long-term complications of undiagnosed galactosemia include mental and physical retardation. The baby will display developmental delays. You will also notice speech and learning difficulties.
- Lack of intervention eventually leads to fatal symptoms such as brain damage and kidney failure.
A poor appetite and appearance of jaundice are sufficient reasons to take the baby to a doctor for a thorough diagnosis.
How Is Galactosemia Diagnosed?
A heel prick test is done to diagnose the disease. The test is offered in nearly all hospitals in several countries. The doctor collects a small sample of blood from a tiny prick on the baby’s heel. The blood goes through analysis for different genetic disorders that include galactosemia. In countries where the screening is not done at birth, the doctor will request blood tests looking for the GALT levels in the red blood cells.
[ Read: Causes Of Diarrhea In Babies ]
How Is Galactosemia Treated?
There is no cure for the disease, and the treatment method aims at managing the condition better. The early diagnosis and subsequent management allow for better control of a baby’s galactose intake.
How To Manage Galactosemia?
Management of galactosemia works best when it begins before the baby is ten days old (4). It prevents the onset of severe symptoms and possible developmental delays. The following are the steps to manage galactosemia in babies and ensure that they get the nutrients in the right quantity:
- Eliminate milk, including breast milk and milk-based formula from the baby’s diet since infants with galactosemia cannot digest breast milk.
- Avoid dairy products such as yogurt, milk-based desserts, milk cookies, and other food items that use dairy ingredients.
- Galactosemia does not mean your baby cannot eat anything all. Use dairy alternatives such as soy milk-based formula and hydrolyzed protein formula that are free of galactose (5). These are fortified with nutrients and provide the baby with the nourishment that they get from breast milk or dairy milk formula.
- Once your baby is older than six months, introduce other foods into the diet to compensate for the absence of milk. For instance, you can give the baby a wide variety of fruits and vegetables. A certified pediatric dietitian can suggest the best diet for your baby with the right balance of vital nutrients.
- A baby will need the right amount of supplements for nutrients that the baby would have received from milk. Calcium is one of the most critical supplement that a baby with galactosemia will need for the rest of their life. A blend of daily supplements ensures healthy cognitive and physical growth.
- Speech and learning therapies: A child with galactosemia can still encounter developmental delays. Developmental delays are preventable through timely intervention. Your pediatrician can suggest speech and other learning therapies that counter any delays. The infant may still have some mild intellectual disability when compared to healthy peers, but he/she can continue to live a normal life.
Staying clear of milk and milk-based products early in life is all that is primarily needed to prevent the onset of adverse effects of galactosemia. Parents wonder if galactose is limited to milk and if there can be other sources of this sugar.
What Foods To Limit Or Avoid In Galactosemia?
There are foods beyond milk and dairy that can contain the galactose sugar. Example of foods that can contain galactose are dried fruits, nuts, legumes, and organ meats (6). Several fruits and vegetables also have the galactose sugar. Organ meats (liver, kidney) dried fruits, and nuts have high quantities of galactose so should be avoided. But fruits, vegetables, and legumes do not have a high quantity of galactose sugar.
Many experts state that fruits, vegetables, and legumes contain a trace amount of galactose, which is insignificant to cause problems (7) (8). The main objective of galactosemia diet is total avoidance of milk and milk products, which have the most galactose. Restrictions of other food sources of galactose can depend on the severity of the child’s galactosemia. A certified pediatric dietitian can recommend you the best mix of food items for a child with galactosemia.
How To Prevent Galactosemia?
You cannot prevent galactosemia, which is a genetic disorder. You and your partner can screen yourself for the defective gene before conceiving to make sure you are not carriers of the disease.
Next, we answer some other commonly asked questions related to galactosemia.
[ Read: Lactose Intolerance In Babies ]
Frequently Asked Questions About Galactosemia
1. Is galactosemia same as lactose intolerance?
No. Lactose intolerance occurs when the small intestine does not produce enough lactase enzyme to digest the lactose sugar (9). A person with galactosemia can produce lactase and a person with lactose intolerance will be able to process galactose. Although lactose and galactose are closely related, these sugars are processed differently within the body, which makes galactosemia different from lactose intolerance.
2. What happens when only one parent has the defective galactosemia gene?
The baby will then be a carrier of the gene but will not display the symptoms. The condition is genetically autosomal recessive. It means the good gene will dominate over the unhealthy one. Therefore, if one parent has the unhealthy gene and the other has the healthy one, then the healthy one will override the effect of the defective one, and the baby will only be the carrier.
Most individuals with galactosemia can live a healthy and fulfilling life with minimal interference from the disorder. Your child will have to undergo periodic tests and dietary modifications for a lifetime, but other than that, they can live a normal life.
Have something to share about galactosemia? Share your thought and experiences with us in the comment section below?
2. Galactosemia. Galactosemia foundation
3. Galactosemia. National Organization for Rare Disorders
4. Galactosemia. U.S. Department of Health & Human Services
5. Use of Soy Protein-Based Formulas in Infant Feeding. American Academy of Pediatrics
6. Galactosemia Diet Resources. Galactosemia foundation
7. Galactosemia. The University of Chicago
8. Classic galactosemia: dietary dilemmas. National Center for Biotechnology Information
9. Lactose intolerance. U.S. National Library of Medicine
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