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Genetic diseases - when diet is exceptionally significant
Table of Contents
1. Phenylketonuria – symptoms and therapy
Phenylketonuria is a rare metabolic disorder with a genetic basis, caused by a mutation in a gene that codes for the enzyme phenylalanine hydroxylase, which is necessary for the metabolic conversion of phenylalanine, one of the exogenous amino acids delivered to the body with food. The deficiency of this enzyme results in the accumulation of phenylalanine and its metabolic products in the blood, leading to disruption of the body’s functioning, primarily in the nervous system. Early symptoms of phenylketonuria manifest in infancy and include symptoms such as hyperactivity, vomiting, seizures, skin rashes, and a characteristic odor, sometimes referred to as a mouse odor. In the case of improper treatment of phenylketonuria, irreversible neurological changes such as speech disorders, gait disorders, impairment of visuomotor coordination, epileptic seizures, and intellectual disability may occur. In Poland, a routine screening for phenylketonuria is performed on every newborn, which allows for early diagnosis. Unfortunately, there are no medications that can stop the development of phenylketonuria. The basis of therapy is the early introduction and strict adherence to an elimination diet, which allows for symptom relief and prevention of serious damage to the nervous system.2. Diet for individuals with phenylketonuria
The primary principle of the diet for individuals with phenylketonuria is to avoid high-protein products as they contain large amounts of phenylalanine. Patients should not consume meat, 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 converted to phenyloalanine 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 phenyloalanine) 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 that occurs due to the absence of an enzyme required for converting galactose into glucose. Galactose is a simple sugar that is part of the milk sugar, or lactose. When a newborn begins to drink his mother's milk, the first symptoms appear: diarrhea, vomiting, loss of appetite, excessive sleepiness or arousal, as well as weight gain. If the disease is not diagnosed and treated early, serious complications may occur, such as liver failure, sepsis, cataract, renal failure and abnormal intellectual development. 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 excluding products with 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 given special lactose-free milk substitutes. In later stages of life a strict dairy-free diet should be followed. It consists in the exclusion of milk, soy products and ready-made products containing dairy products (e.g. cakes, fruits, dairy products, soy products).5. Fructose Intolerance – symptoms and treatment
Fructose Intolerance 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 fructose intolerance
Individuals 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 - symptoms and treatment options
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. Diets for Cystic Fibrosis
The goal of diethotherapy in cystic fibrosis is to maintain appropriate body weight and prevent malnutrition. Patients with cystic fibrosis have a significantly higher daily 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 also increase the basal metabolic rate. Therefore, the main rule of nutrition in cystic fibrosis is a high-calorie diet, a significant portion of which (up to 40–50%) is based on fat intake. Protein intake is also important – the requirement in children with cystic fibrosis is approximately 2.5 g/kg of body weight. Therefore, the menu should be protein-rich – each meal should contain a good source of protein (meat, fish, eggs, dairy, legumes). Due to the impaired absorption of fat, regular supplementation with vitamins A, D, E, and K is necessary. In most cases, the administration of pancreatic enzymes before meals is also necessary.9. Abstract
Conditions such as phenylketonuria, galactosemia and fructosemia require rigorous monitoring of the products consumed by affected individuals. The earlier an elimination diet is implemented, the less likely are severe disturbances and complications. It should be highlighted that the absence of dietary adjustment in these disorders may lead to death. To ensure that the diet is appropriately tailored, it may be beneficial to seek the assistance of a qualified dietitian. Specialist care is also recommended in the case of cystic fibrosis - the aim of diet therapy is then to maintain the patient's appropriate nutritional status.
