When feeding a newborn baby, whether it's breast milk or formula, sometimes little problems arise, right? Imagine, what if your baby can't digest a type of sugar in milk? Yes, it can happen. Galactosemia is the inability to digest the type of sugar in milk called 'galactose'. This can be a serious condition, but if it is recognized early, we can reduce a lot of the big problems that the baby can have.
How does this condition affect the baby's body?
Simply put, when your baby's body can't break down the sugar galactose found in food, especially milk, and turn it into energy, it starts to build up in the blood. In fact, the word 'galactosemia' literally means "the presence of galactose in the blood." So when galactose builds up in the blood, it spreads throughout the body. Then, an enzyme that doesn't normally work with galactose converts this galactose into an alcohol called 'galactitol.' This galactitol is toxic to the body.
When this toxic galactitol builds up in the baby's organs and tissues, it begins to damage them. If left untreated, galactosemia can cause serious side effects such as:
- Cataracts .
- Developmental delays .
- Intellectual disabilities .
- Speech difficulties .
- Fine and gross motor difficulties, meaning difficulty with fine motor skills, such as walking and running.
- Neurological impairments .
- Kidney disease .
- Premature ovarian insufficiency in female children.
- Liver failure .
- Sepsis is a severe infection.
Imagine how important it is to recognize this condition early! If you recognize it early, remove galactose from your baby's diet, and treat it properly, you can prevent many of these problems.
However, even with early detection and treatment, some children may continue to have minor problems. This is because even if we completely eliminate galactose from our diet, our bodies still produce a small amount of galactose naturally. This is called endogenous galactose . Therefore, children who are treated may sometimes have the following:
- Speech delays.
- Learning disabilities.
- Behavior problems.
- Problems with balance and coordination ( ataxia ).
- Tremors .
- Hormonal deficiencies, especially delayed puberty in girls.
How does galactosemia affect adults?
Adults with galactosemia can live normal lives. However, those who had symptoms as children may have some problems throughout their lives. Some symptoms may be milder or worse depending on how they control their diet. However, things like hormone deficiencies are common, even with treatment.
Often, women with galactosemia, even if the disease is diagnosed and treated early, can develop problems with their ovaries. This is called primary ovarian insufficiency . This can make it difficult to conceive and maintain a pregnancy. Hormone replacement therapy may also be needed to help regulate menstruation. This hormone therapy can also help with fertility problems.
Who gets this disease? How common is it?
Galactosemia is a genetic disorder . It is inherited. A child will develop the condition if both parents inherit a mutated gene for it. If both of your parents are carriers of the mutated gene, you have a 25% chance of developing galactosemia. It can affect people of all ethnicities.
The most severe form , called classic galactosemia, is a little less common. Roughly speaking, it affects about 1 in 45,000 people.
There is a slightly less severe form called Duarte galactosemia . It is a bit more common, affecting about 1 in 4,000 people. It is not really an inability to digest galactose, but rather a sensitivity to it.
What are the symptoms of a newborn baby with galactosemia?
If a newborn baby has classic galactosemia, they will start showing symptoms within a few days of breastfeeding. These symptoms may vary from time to time:
- The food is tasteless.
- Frequent drowsiness, lethargy .
- Vomiting.
- Diarrhea.
- Significant weight loss.
- Weakness.
- Failure to thrive .
- Jaundice ( jaundice ) means yellowing of the skin.
- Liver swelling.
- Swelling of the abdomen ( ascites ).
- Swelling around the brain ( edema ).
If you experience any of these symptoms, you should see a doctor immediately . Once a doctor diagnoses this as galactosemia, these symptoms should subside once galactose is removed from your baby's diet.
What causes galactosemia?
The main reason for this is a gene mutation . That is, a change in the genes. This must be inherited from both the mother and the father. Both parents can be carriers of this gene, but they may not show symptoms. So when the baby has this condition, it can be a big surprise.
Due to this altered gene, the enzymes needed to convert the sugar galactose into energy are not produced properly in the body. Then, chemicals made from galactose accumulate in the body. There are three different types of genes involved in this. Accordingly, Galactosemia is also divided into three types.
What are the different types of Galactosemia?
Type I (Classic Galactosemia)
This is the most common and severe form of galactosemia. It is also called classic galactosemia. It is caused by a mutation in the GALT gene . This gene makes an enzyme that breaks down the sugar galactose into usable substances like glucose. In this type, the enzyme is almost completely absent. As a result, the body cannot digest galactose, and it accumulates quickly.
Type II (Galactokinase deficiency)
This second type is caused by a mutation in the GALK1 gene . The enzymes produced by this gene help in the digestion of galactose. This type has fewer health problems than the first type. The main risk is the development of cataracts.
Type III (Galactose epimerase deficiency)
The GALE gene is involved in this. This also produces enzymes that help digest galactose. If these enzymes are reduced, galactose accumulates in the body. This third type can sometimes cause mild symptoms, but sometimes it can cause severe symptoms. If it is severe, it can cause cataracts, developmental delays, intellectual disabilities, liver disease, and kidney problems, just like type 1.
Duarte galactosemia
This is also caused by a mutation in the same GALT gene that causes classic galactosemia. However, in this case, the genetic mutation is not as severe. The enzyme that digests galactose is reduced in activity, but not completely absent. People with Duarte galactosemia may experience minor stomach upset when they eat foods containing galactose, but they do not experience major health problems like other types. They do not necessarily need to eliminate galactose from their diet.
How is Galactosemia diagnosed?
In developed countries like the United States, every newborn baby is screened for several of these diseases. These tests can detect these conditions before symptoms appear. This is sometimes called the PKU test , because it can also detect other diseases, such as phenylketonuria .
This test is done by taking a small drop of blood from the baby's heel. This is usually done about 24 hours after the baby is born. If your baby has galactosemia, the blood test will show that the GALT enzyme activity is low. The medical team will then do genetic testing to see what type of galactosemia the baby has. Some hospitals in Sri Lanka have the facilities to do this type of test, or you can ask your doctor about it.
How is galactosemia treated?
The only treatment for this is to completely eliminate galactose from the diet . Galactose is part of the sugar in milk called lactose, so it is usually necessary to eliminate almost all dairy products. This means that you cannot give breast milk, cow's milk, yogurt, or cheese. Newborn babies can be given soy-based formula or specially formulated elemental formula.
Children and adults who do not consume dairy products may be deficient in calcium and vitamin D. Therefore, they may need to take supplements. This helps keep bones strong.
What kind of treatment is needed for long-term side effects?
Some children may need extra help to learn and develop as they grow. This means:
- Speech therapy .
- Occupational therapy means helping with everyday tasks.
- Behavioral therapy .
- Targeted learning plans .
Young children, especially girls, may need hormone therapy to help them reach puberty and menstruate.
Can Galactosemia be prevented?
Because it is a genetic condition, you cannot control whether you or your child will inherit it. However, you and your partner can get genetic testing to see if you have the mutation before you have a child. You may be a carrier, but you may not have symptoms. If you know this early, you can plan for the possibility that your children will inherit it. Genetic counseling can help you understand more about this. Early detection of the condition is the best way to reduce the potential negative effects.
What is the life expectancy of someone with galactosemia?
If the disease is diagnosed early and a galactose-free diet is followed, life expectancy is normal. However, if permanent organ damage occurs in the newborn period, it can affect long-term health.
How do adults living with galactosemia take care of themselves?
The most important thing for anyone living with galactosemia is to maintain a strict galactose-free diet . This requires a lot of discipline. Many adults find it helpful to join communities where people like them can share recipes and experiences. If symptoms persist, this kind of social support is invaluable.
Adults with galactosemia should see their doctor regularly to check for symptoms. These tests may include:
- Eye examination (for cataracts).
- Testing the functioning of the nervous system (for things like executive function, attention deficit/hyperactivity disorder (ADHD) , tremors, and ataxia ).
- Bone density testing (for calcium and mineral deficiencies).
- Checking hormone levels (especially in women).
By doing regular checks like this, any deficiencies can be identified early and treated before they become severe.
Although galactosemia is a rare disease, it can be detected early through genetic testing. If you are pregnant or planning to have a baby, you and your partner can be tested for the gene for galactosemia. If both of you have the gene, there is a 25% chance that your child will develop it. Awareness is the greatest strength. This can help you plan ahead to avoid the worst-case scenarios of this disease.
If your newborn baby has been diagnosed with this condition, you may be feeling a lot of emotions (shock, confusion). Galactosemia is often unexpected, especially if there is no family history of the condition. Because it is rare, it can sometimes be under-diagnosed even among doctors. However, with early detection, the most severe effects of galactosemia can be prevented.
With proper diet management, your child can live a relatively normal life. Some developmental issues may arise, which may require additional therapy. These unexpected challenges can arise for parents for a variety of reasons. However, by being aware of such a condition, you have the advantage of being able to prepare for those challenges in advance, recognize them early, and intervene early to achieve the best possible outcome.
The most important things to remember from this article (Take-Home Message)
Okay, so now you have a better understanding of what we've been talking about, Galactosemia. Here are some important things to remember:
- Early detection is life-saving: Newborn screening can detect this early, which can prevent many serious complications.
- Dietary control is essential: A galactose-free (especially lactose-free) diet should be followed throughout life.
- Genetic counseling is important: By getting genetic testing done before starting a family, parents can be aware of the risk of a child inheriting this disease.
- Long-term support: The child's growth, learning, and overall health should be monitored regularly. Therapeutic support should be provided if necessary. Regular medical check-ups and support from support groups are also important for adults.
- You are not alone: Dealing with this condition can be challenging. However, with the support of doctors, nutritionists, therapists, and loved ones, this journey can be accomplished.
Don't worry, with awareness and proper measures, both a child and an adult with galactosemia can live a good life.
` Galactosemia, Galactosemia, newborns, genetic diseases, enzymes, metabolic diseases, diet, newborn screening, genetic disorder
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