The Galactose-Free Diet: Living with Galactosemia

Galactosemia is an uncommon genetic condition that stops the body from being able to break down a type of sugar called galactose, which we normally get from dairy products, breast milk, and certain fruits and vegetables.

People with galactosemia don’t have enough of a certain enzyme needed to change galactose into glucose, our body’s primary energy source. This causes galactose to build up in the blood and body tissues, leading to various health issues.

For those living with galactosemia, sticking to a diet that doesn’t include galactose is crucial to avoid serious health problems and live a better life.

A galactose-free diet means avoiding all foods and drinks with galactose or lactose (a sugar made from glucose and galactose). This includes dairy products like milk, cheese, yogurt, ice cream, butter, cream, and also some processed foods that might have hidden sources of galactose or lactose, such as bread, cereals, cakes, cookies, sauces, soups, and candies.

In this piece, we’re going to talk about what galactosemia is, how it affects the body, how it’s identified and managed, and how to stick to a galactose-free diet.

What is Galactosemia?

Galactosemia is a metabolic condition that stops the body from properly breaking down galactose. Galactose is a simple sugar that comes from lactose, a more complex sugar in milk and dairy products.

Normally, when we eat lactose, an enzyme known as lactase splits it into glucose and galactose in our small intestine.

Then, a different enzyme called galactokinase changes galactose into galactose-1-phosphate in our liver.

Finally, a third enzyme called galactose-1-phosphate uridyltransferase (GALT) turns galactose-1-phosphate into glucose-1-phosphate, which our bodies can use for energy or store as glycogen.

However, people with galactosemia have a mutation in one or more genes that produce these enzymes, which leads to a lack of these enzymes. This causes galactose and galactose-1-phosphate to build up in the blood and tissues, where they can damage various organs and systems.

The most affected organs are the liver, kidneys, brain, eyes, and ovaries.

The Different Forms of Galactosemia

Galactosemia comes in three main types, depending on which enzyme is lacking or absent:

• Classic galactosemia (also known as type I or GALT deficiency): This is the most common and severe form. It happens when there’s little or no GALT enzyme activity. People with classic galactosemia can’t change galactose-1-phosphate into glucose-1-phosphate at all, causing high levels of galactose and galactose-1-phosphate in the blood and tissues. Classic galactosemia affects about 1 in 60,000 births among people of European ancestry.

• Galactokinase deficiency (also known as type II or GALK deficiency): This milder form happens when there’s little or no galactokinase enzyme activity. People with this type can convert some, but not all, of the galactose into galactose-1-phosphate. This leads to high levels of galactose but normal levels of galactose-1-phosphate in the blood and tissues. Galactokinase deficiency affects about 1 in 100,000 births worldwide.
• Galactose epimerase deficiency (also known as type III or GALE deficiency): This rare and variable form happens when there’s little or no galactose epimerase enzyme activity. This enzyme is involved in changing galactose into glucose and vice versa. People with this type can have high or normal levels of galactose and galactose-1-phosphate in the blood and tissues, depending on the severity of the enzyme deficiency. Galactose epimerase deficiency affects less than 1 in 1,000,000 births worldwide.

Recognizing and Diagnosing Galactosemia

Galactosemia symptoms can vary, depending on the type and severity of the condition and the amount of galactose consumed.

Symptoms usually appear within a few days or weeks after birth when the baby starts to consume breast milk or formula that contains lactose. However, some symptoms might not appear until later in life.

The most common galactosemia symptoms include:

• Difficulty eating and gaining weight
• Vomiting and diarrhea
• Jaundice (yellowing of the skin and eyes)
• Enlarged liver and spleen
• Damage to the liver and kidneys
• Cloudy eye lens (cataracts)
• Infections, especially from a bacteria called E. coli
• Unexplained bleeding and bruising
• Low blood sugar (hypoglycemia)
• Lethargy and irritability
• Seizures and coma
• Developmental delays and intellectual disabilities
• Speech difficulties and slurred speech
• Problems with movement coordination
• Nerve damage and other neurological impairments
• Hormonal imbalances, such as low thyroid function and low cortisol production
• Early menopause in females
• Delayed puberty in males

To diagnose galactosemia:

• Newborn screening: This blood test is done for all babies shortly after birth to check for certain genetic disorders, including galactosemia. The test measures the levels of galactose or galactose-1-phosphate in the blood. High levels can indicate a possible diagnosis of galactosemia.
• Confirmatory tests: These additional blood or urine tests are done to confirm a galactosemia diagnosis and identify the type and severity of the condition. The tests measure the activity or amount of the enzymes involved in galactose breakdown, such as GALT, GALK, or GALE. They may also measure the levels of other substances affected by galactosemia, such as red blood cells, bilirubin, ammonia, amino acids, organic acids, or hormones.
• Genetic tests: These tests look for the specific mutations in the genes that cause galactosemia. They can help confirm the diagnosis, determine the type and severity of the condition, identify carriers, and provide genetic counseling.

Is Galactosemia Genetic?

Galactosemia, a genetic disorder passed down through families, occurs when both parents pass a mutated gene to their child, requiring two copies for the condition to manifest. Carriers, inheriting just one mutated gene, won’t have symptoms but may pass it on.

Is Galactosemia Inherited?

Galactosemia, a genetic disorder, is inherited in an autosomal recessive pattern, requiring both parents to pass on the mutated gene. Each pregnancy has a 25% chance of affecting a child if both parents are carriers. There’s also a 50% chance the child will be a carrier without symptoms and a 25% chance they’ll be completely unaffected, potentially passing the gene to future generations.

If only one parent is a carrier, there’s a 50% chance their child will be a carrier and a 50% chance their child will be neither.

Genetic counseling is recommended for people who have or are at risk of having galactosemia or being carriers.

Genetic counselors can provide information about the condition, its inheritance patterns, its risks and complications, its diagnosis and treatment options, its impact on family planning, and its psychological aspects. They can also help people access genetic testing services and support resources.

Managing Galactosemia

Although there’s no cure for galactosemia, it can be controlled with the right medical treatments and lifestyle changes. The main option is avoiding food with galactose for life.

This can help prevent or reduce the risk of serious issues like liver failure or brain damage. Even with a strict diet, some people with galactosemia may still develop these issues and may need extra treatments like medicine, surgery, or organ transplant.

They also need to live a healthy lifestyle with regular exercise, drinking enough water, good cleanliness, and stress management. It’s also important for them to have support from their family, friends, health care team, and support groups.

The Galactose-Free Diet

To follow a diet without galactose, you need to avoid or limit certain foods, particularly milk and dairy products. This is because they contain galactose, a simple sugar.

If you have galactosemia, galactose, and its leftovers can pile up in your blood and cause serious health issues. A galactose-free diet helps prevent these problems and improves life for people with galactosemia.

What foods should be avoided with galactosemia and why

The main food source of galactose is lactose, a sugar made up of glucose and galactose. Lactose is in milk and most dairy products, such as yogurt, cheese, cream, butter, ice cream, and sour cream.

These foods should be avoided or limited if you’re following a galactose-free diet.

Even if some dairy products, like mature cheeses (e.g., cheddar, Swiss, Parmesan), have less lactose, they still contain some galactose and should be eaten with caution.

Other foods that might have lactose or galactose are:

• Baked items, like bread, cakes, cookies, muffins, and pastries
• Sweets, chocolates, and chewing gum
• Cereals, granola bars, and oatmeal
• Toppings, sauces, dressings, and marinades
• Processed meats, like bacon, ham, sausage, hot dogs, and deli meats
• Soups, broths, gravies, and dishes with cream
• Instant coffee, creamers, and flavored drinks

It’s crucial to read the labels of packaged foods and look for ingredients that signal the presence of lactose or galactose, such as:

• Milk solids or powder
• Whey or whey protein
• Casein or caseinate
• Lactose or lactitol
• Lactic acid or lactate
• Galactose or galactosides

Foods you can enjoy on Galactose free diet

There are lots of foods you can eat on a galactose-free diet. These foods provide essential nutrients and health benefits. These include:

• Fruits: Fruits are packed with vitamins, minerals, antioxidants, and fiber. They also add natural sweetness and flavor to your meals. Fruits that you can have on a galactose-free diet are apples, oranges, berries, peaches, plums, grapes, pineapples, and mangoes.
• Vegetables: Vegetables are low in calories but high in nutrients and helpful chemicals that can protect against long-term diseases. They also provide fiber and water that can help with digestion and hydration. Vegetables that are okay on a galactose-free diet are onions, garlic, broccoli, kale, spinach, arugula, collard greens, zucchini, and carrots.
• Meat: Meat is a good source of protein, iron, zinc, and B vitamins that are important for growth and development. Meat also gives you amino acids that are needed for the creation of enzymes and hormones. Meats you can have on a galactose-free diet are beef, lamb, pork, and veal.
• Poultry: Poultry is another source of protein that is leaner than red meat and lower in saturated fat and cholesterol. Poultry also contains selenium, phosphorus, and niacin that support various body functions. Types of poultry you can have on a galactose-free diet are chicken, turkey, goose, and duck.
• Seafood: Seafood is an excellent source of protein that is low in calories and high in omega-3 fatty acids that can reduce inflammation and improve heart health. Seafood also has iodine, selenium, and vitamin D that are important for thyroid function and bone health. Seafood you can eat on a galactose-free diet are tuna, mackerel, salmon, anchovies, lobster, sardines, and clams.
• Eggs: Eggs are one of the most complete sources of protein with all nine essential amino acids. Eggs also provide choline, biotin, and vitamin B12 that are involved in brain function and nerve transmission. Both egg yolks and egg whites are okay on a galactose-free diet.
• Soy foods: Soy foods are plant-based sources of protein that also contain isoflavones, plant estrogens that can change hormone levels and reduce the risk of certain cancers. Soy foods also give you calcium, iron, magnesium, and folate that are important for bone health and blood formation. Soy foods you can have on a galactose-free diet are tofu, tempeh, natto, and miso.
• Legumes: Legumes are another plant-based source of protein that also give you complex carbohydrates and fiber that can lower blood sugar and cholesterol levels. Legumes also have iron, folate, potassium, and zinc that are important for immune function and wound healing. Legumes you can have on a galactose-free diet are black beans, kidney beans, lentils, pinto beans, and chickpeas.
• Whole grains: Whole grains are grains that have not been refined and keep their bran, germ, and endosperm. They give you complex carbohydrates and fiber that can improve digestion and make you feel full. They also contain B vitamins, magnesium, selenium, and helpful chemicals that can regulate metabolism and prevent harmful stress. Whole grains you can have on a galactose-free diet are barley, buckwheat, quinoa, couscous, wheat, farro, and oats.
• Nuts: Nuts are high in healthy fats, protein, and fiber that can lower cholesterol levels and reduce the risk of heart disease. Nuts also provide vitamin E, copper, manganese, and selenium that can protect against cell damage and inflammation. Nuts you can have on a galactose-free diet are almonds, walnuts, pistachios, cashews, Brazil nuts, and hazelnuts.
• Seeds: Seeds are like nuts in their nutritional profile, but they also contain lignans, plant chemicals that can change hormone levels and prevent certain cancers. Seeds also provide calcium, iron, zinc, and magnesium that are important for bone health and muscle function. Seeds you can have on a galactose-free diet are chia seeds, flax seeds, sunflower seeds, pumpkin seeds, and sesame seeds.
• Milk alternatives: Milk alternatives are drinks that are made from plants or nuts and do not contain lactose or galactose. They can be used as substitutes for milk in recipes or drinks. Some milk alternatives may be enriched with calcium, vitamin D, and other nutrients to increase their nutritional value. Milk alternatives you can have on a galactose-free diet are lactose-free milk, rice milk, almond milk, oat milk, coconut milk, cashew milk, hemp milk, and soy milk.
• Lactose-free yogurts: Lactose-free yogurts are yogurts that are made from milk alternatives or have lactase added to them to break down the lactose. They can provide probiotics, helpful bacteria that can improve gut health and immunity. They can also provide protein, calcium, and vitamin B12 that are important for muscle function and nerve transmission. Lactose-free yogurts you can have on a galactose-free diet are coconut yogurt, almond milk yogurt, soy yogurt, cashew yogurt, and lactose-free dairy yogurt.

Meal Planning and Tips for a Galactose-Free Diet

Practical tips for grocery shopping and meal planning

Following a galactose-free diet may seem hard at first, but with some planning and preparation, it can be easy. Here are some practical tips for grocery shopping and meal planning on a galactose-free diet:

• Make a list of foods that you can eat and foods that you should avoid or limit on a galactose-free diet. Use this list as a guide when you shop for groceries or eat out.
• Read the labels of packaged foods carefully and look for ingredients that show the presence of lactose or galactose. Avoid foods that contain these ingredients or choose products that are labeled as lactose-free or dairy-free.
• Stock up on staples that you can use to make various dishes on a galactose-free diet, such as fruits, vegetables, whole grains, legumes, nuts, seeds, eggs, meat, poultry, seafood, soy foods, milk alternatives, and lactose-free yogurts.
• Plan your meals ahead of time and use recipes that are suitable for a galactose-free diet. You can find many recipes online or in cookbooks that cater to this eating pattern. You can also change your favorite recipes by replacing ingredients that contain lactose or galactose with alternatives that do not.
• Cook in bulk and freeze leftovers for later use. This can save you time and money and make sure that you always have something to eat on a galactose-free diet.

Ideas for snacks and desserts

Snacks and desserts can be enjoyed on a galactose-free diet as long as they do not contain lactose or galactose. Here are some ideas for snacks and desserts that are galactose-free:

• Fresh or dried fruits
• Nuts or seeds
• Granola bars or energy bars made with oats, nuts, seeds, dried fruits, and honey
• Popcorn or rice cakes
• Crackers or pretzels with nut butter or jam
• Muffins or cookies made with oat flour, almond flour, or coconut flour
• Banana bread or zucchini bread made with oil instead of butter
• Popsicles or sorbet made with fruit juice or puree
• Ice cream or frozen yogurt made with milk alternatives or lactose-free milk
• Chocolate or fudge made with cocoa powder and sugar
• Cakes or pies made with fruit filling and pastry made with oil instead of butter.

Coping up with Galactosemia

Handling Galactosemia, a rare genetic disorder, can be tough, both physically and emotionally. People with galactosemia must live with it their whole life and be very careful with their diet to avoid foods containing galactose.

They may feel isolated or misunderstood by people who don’t understand their diet needs. Finding the right foods when eating out or traveling can also be difficult.

Regular doctor visits and tests to monitor their condition and the emotional stress and anxiety of living with galactosemia can be difficult.

Emotional Impact of Galactosemia and the Importance of Diet

Having Galactosemia means you have to stick to a special diet that doesn’t contain galactose. This involves avoiding food with lactose (milk sugar), galactose, or galactose ingredients.

This is a crucial part of the treatment of Galactosemia. It might be tough, especially for kids who feel left out because they can’t eat the same things as their friends. Some people might also feel anxious, depressed, or lonely because of their condition.

Understanding and dealing with these emotional aspects are crucial when living with Galactosemia. Talking to mental health professionals, like psychologists or counselors, could be really helpful.

They can guide you on how to handle these feelings and difficulties. Connecting with others who are in the same situation can also be a source of comfort.

Role of Family and Friends

Family and friends’ support is critical for those dealing with Galactosemia. Family can help in many ways, from understanding the cause of Galactosemia to providing emotional and practical help, ensuring that the galactose-free diet and medical care are followed.

Support from friends, teachers, coworkers, or anyone who understands and respects the person’s dietary needs can also be really helpful. It can help the person feel less alone and more accepted and provide chances for relaxation and fun.

Available Support Resources

There are many resources out there for people with Galactosemia and their families. These include:

• The Galactosemia Foundation: This nonprofit helps educate and advocate for people with Galactosemia and their families. They also host events and online forums where people can connect and share their experiences.
• The Genetic and Rare Diseases Information Center (GARD): This service from the National Institutes of Health provides information about rare diseases, like Galactosemia. They also have contact information for patient organizations, research studies, and clinical trials.
• The National Organization for Rare Disorders (NORD): This group represents more than 300 patient organizations for people with rare diseases, including Galactosemia. NORD provides advocacy, education, and funding for rare disease research.
• Online communities: These are platforms where people with Galactosemia and their families can join groups, chat, or blog to communicate with others who are in a similar situation.

FAQs

Can people with galactosemia have children?

Individuals with galactosemia can have children, but genetic counseling is recommended to understand inheritance risks. With proper guidance, they can make informed reproductive choices.

Can a baby have galactosemia if only one parent is a carrier?

A baby cannot develop galactosemia with only one parent as a carrier. Both parents must pass on the mutated gene for the condition to manifest.

Does galactosemia run in families?

Galactosemia is inherited, meaning it does run in families. It follows an autosomal recessive pattern, requiring both parents to be carriers for a child to be affected.

How is galactosemia passed on?

Galactosemia is passed through an autosomal recessive pattern. A child inherits one mutated gene from each parent, leading to the development of the condition.

What is the probability their first child will have galactosemia?

If both parents are carriers, there’s a 25% probability their child will inherit galactosemia, a 50% chance of being a carrier, and a 25% chance of not inheriting the gene.

Is galactosemia more common in males or females?

Galactosemia affects males and females equally because it is an autosomal disorder, not linked to sex chromosomes.

Can you breastfeed an infant with galactosemia?

Breastfeeding is not recommended for infants with galactosemia due to lactose content. Specialized lactose-free formulas are advised.

Is there a genetic test for galactosemia?

Genetic testing can diagnose galactosemia by identifying mutations in the gene responsible for processing galactose.

What happens if someone with galactosemia eats dairy?

Consuming dairy can cause severe complications in people with galactosemia, including liver damage and developmental issues, due to their inability to process galactose.

Is galactosemia the same as lactose intolerance?

Galactosemia and lactose intolerance are different; the former is a genetic condition preventing galactose processing, while the latter involves difficulty digesting lactose.

Can you grow out of galactosemia?

Galactosemia is a permanent genetic condition. Lifelong adherence to a galactose-free diet is necessary for health management.

What happens if galactosemia is left untreated?

Untreated galactosemia can lead to severe complications like liver failure, cataracts, intellectual disability, and potentially life-threatening infections.

Does almond milk have galactose?

Almond milk is galactose-free, making it a safe alternative for individuals with galactosemia seeking non-dairy milk options.

How do you treat galactosemia in newborns?

Newborns with galactosemia are treated with a strict galactose-free diet to prevent the harmful effects of the disorder.

Can galactosemia be cured?

There’s no cure for galactosemia. Management involves a lifelong diet free from galactose to mitigate symptoms and prevent complications.

Final Words

Galactosemia is a rare genetic disorder that affects the body’s ability to break down galactose, a sugar found in dairy products, breast milk, and most baby formulas.

To prevent severe health problems like liver failure, kidney disease, cataracts, developmental delays, intellectual disabilities, and early onset of menopause, people with Galactosemia need to follow a galactose-free diet for life.

However, living with Galactosemia doesn’t mean you can’t live a happy life. With early diagnosis and treatment, individuals with Galactosemia can lead a relatively normal life.

References:

• https://my.clevelandclinic.org/health/diseases/24062-galactosemia
• https://rarediseases.info.nih.gov/diseases/2424/galactosemia
• https://www.britannica.com/science/galactose
• https://www.sciencedirect.com/topics/medicine-and-dentistry/galactose
• https://diethand.com/low-galactose-diet/
• https://www.healthline.com/nutrition/lactose-free-diet
• https://pubmed.ncbi.nlm.nih.gov/7671974/
• https://www.negenetics.org/sites/default/files/media/2021-05/printable-galac.pdf