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Genetic disorders - when diet plays an extraordinary role
Table of Contents
1. Phenylketonuria - Manifestations and Therapy
Phenylketonuria is a rare metabolic disorder with a genetic basis that arises from a mutation in a gene responsible for coding phenylalanine hydroxylase, an enzyme necessary for the metabolic conversion of phenylalanine, one of the exogenous amino acids delivered to the body with food. The deficiency of this enzyme leads to the accumulation of phenylalanine and its metabolites in the body, which causes disruptions in the functioning of the body, primarily in the nervous system. Early signs of phenylketonuria appear in infancy and include symptoms such as hyperactivity, vomiting, seizures, skin rashes, and a characteristic odor. Improper treatment of phenylketonuria can lead to irreversible neurological changes such as speech disorders, gait disorders, impairment of visuomotor coordination, epileptic seizures, and intellectual disability. In Poland, routine screenings for phenylketonuria are performed on every newborn, allowing for early detection of the condition. Unfortunately, there are no medications that can halt the progression of phenylketonuria. The foundation of therapy is the early introduction and stringent adherence to an elimination diet, which enables symptom management and the prevention of serious damage to the nervous system.2. Diet for individuals with phenylketonuria
The fundamental principle of the diet for individuals with phenylketonuria is to avoid high-protein products as they contain significant amounts of phenylalanine. Patients should not consume meats, fish, eggs, milk, poultry, legumes, plant seeds, nuts, cocoa, and whole grain products. The diet should also exclude products sweetened with aspartame as it is metabolized into phenylalanine in the body. The second group of products are those that can be present in the diet in moderate amounts. These include dietary amino acids, fruits, and a special dose of low-fat dietary products (e.g. fish, macadamia, wheat, etc.). The third group consists of permissible products – honey, jam, sugar, and vegetable oils. To meet the protein requirement and provide other amino acids, individuals with phenylketonuria must include białkozastępcze preparations (which do not contain phenylalanine) in their diet. The daily dose should be divided into several portions. It is important to establish the daily amount of phenylalanine that can be delivered with food based on individual tolerance. Regular monitoring and calculation of the amount in the daily menu is essential. It is also necessary to regularly check the amino acid level in the blood.3. Galactose-1-Phosphate Uridyltransferase deficiency: symptoms and treatment
Galactose-1-Phosphate Uridyltransferase deficiency is a genetic disorder caused by the lack of an enzyme required for the conversion of galactose into glucose. Galactose is a simple sugar that is part of the milk sugar, or lactose. When a newborn starts to take in food in the form of mother's milk, the first symptoms appear, including diarrhea, vomiting, loss of appetite, excessive sleepiness or excitement, as well as weight gain. If the disease is not detected and treated early, serious complications may occur, such as liver failure, sepsis, cataract, renal failure, and intellectual developmental delay. It is important to recognize the disease as soon as possible and take appropriate therapeutic measures to avoid further consequences of the galactose accumulation in the body.4. Diet eliminating products containing galactose and lactose
The primary requirement of the diet in galactosemia is the elimination of products containing galactose and lactose. Newborns and infants should not consume breast milk, hence they are provided with special lactose-free milk substitutes. In later stages of life, a strict dairy-free diet should be followed. It comprises the elimination of milk, dairy products, and ready-made products containing dairy products (e.g. cakes, fruits, dairy products, soy products). Individuals with galactosemia cannot consume products containing high levels of galactose, such as liver, sausages, pâtés, pulses (e.g. beans, chickpeas, soy), and some fruits (e.g. figs, grapes, melons, papaya). On the other hand, allowed are grain products, meat, plant fats, nuts and seeds, and fruits and vegetables with low galactose content (e.g. apples, bananas, kiwi, apricots, corn, carrots, broccoli, zucchini).5. Fructose Deficiency – symptoms and treatment
Fructose Deficiency is another disease with a genetic basis. It is caused by a deficiency or lack of an enzyme responsible for the metabolism of fructose, sucrose, and sorbitol. The first symptoms usually appear during the expansion of the child's diet when they start eating vegetables and fruits. It mainly affects the digestive system, causing symptoms such as vomiting, diarrhea, and bloating. If left untreated, it can lead to a delay in psychomotor development, the onset of hypoglycemia (low blood sugar), acidosis, and in severe cases, liver and kidney damage. The only effective treatment method is a strict diet, similar to the case of phenylketonuria and galactosemia.6. Diet for those with fructose intolerance
Those with fructose intolerance must completely eliminate fructose from their diet. It naturally occurs in fruits, flower nectar, and honey. Additionally, it is present in sugar (e.g., white and garlic sugar), clone syrup, fruit juices, and fruit preparations. Products containing glucose-fructose syrup should also be eliminated from the diet. Sweets, sweetened beverages, alcohol, and some types of baked goods should therefore be avoided. It is also important to pay attention to the ingredients of dietary supplements and medications (especially syrups, oral suspensions, lozenges). Meat, fish, dairy products, eggs, plant fats, and grain products are recommended to be consumed. In moderation, vegetables with low fructose content, such as spinach, lettuce, celery, cucumbers, cauliflower, broccoli, yellow and green peppers, zucchini, and eggplant, are allowed.7. The disease Mycobacteriosis - indications and treatment methods
Mycobacteriosis is a genetic disorder that develops as a result of a genetic mutation. The main symptom is the overproduction and accumulation of thick mucus, which disrupts the functioning of the digestive, respiratory, and reproductive systems. In the digestive system, mucus blocks the flow of pancreatic enzymes, making digestion and absorption of nutrients difficult. In the respiratory system, mucus can cause persistent coughing, wheezing, and inflammation of the sinuses, bronchi, and lungs. Mycobacteriosis is also associated with infertility, particularly in men, as mucus can block the vas deferens. In women, disrupted menstruation or an excessive accumulation of mucus in the fallopian tubes and cervix (which can create a barrier for sperm) can make it difficult to conceive. Mycobacteriosis can lead to complications such as diabetes, cirrhosis of the liver, and heart failure. Mycobacteriosis is not curable, but there are treatment options available to alleviate symptoms, such as antibiotics, inhalations, oxygen therapy, and physiotherapy, to reduce inflammation in the respiratory tract. A suitable diet is also very important.8. Nutrition for Cystic Fibrosis
The goal of nutrition for cystic fibrosis is to provide an adequate amount of calories and nutrients to maintain a healthy body weight and prevent malnutrition. Patients with cystic fibrosis have a significantly higher caloric requirement than healthy individuals, which is due to disruptions in digestion and absorption, as well as increased effort in breathing and coughing. Frequent infections with high fever can also increase energy needs. Therefore, the diet for cystic fibrosis should be high in calories, with a significant portion coming from fat (up to 50%). Protein intake is also important – the requirement for children with cystic fibrosis is approximately 2.5 g/kg of body weight. The menu should include protein-rich foods such as meat, fish, eggs, dairy, and legumes. Due to the impaired absorption of fat, regular supplementation with vitamins A, D, E, and K is also necessary. In most cases, the administration of pancreatic enzymes before meals is also required.9. Summary
Genetic disorders, such as phenylketonuria, galactosemia and fructosemia, necessitate stringent supervision of the products ingested by the afflicted individuals. The sooner an elimination diet is implemented, the less likely are severe disruptions and complications to occur. It is crucial to emphasize that the absence of dietary modification in these conditions may pose a fatal risk. To ensure that the diet is suitably tailored, it may be advantageous to seek the assistance of a qualified nutrition specialist. Specialist care is also advocated for cystic fibrosis - the objective of diet therapy is then to maintain the patient's appropriate nutritional state.
