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Genetic diseases when diet is particularly important
Table of Contents
1. Phenylketonuria symptoms and treatment
Phenylketonuria is a rare metabolic disease with a genetic basis. It is caused by a mutation in a gene that codes for the enzyme phenylalanine hydroxylase. This enzyme is necessary for the metabolic conversion of phenyloalanine into one of the exogenous amino acids (delivered to the body with food). Its deficiency prevents the transmutation of phenylketone into tyrosine, which is a natural process in healthy people. This defect also results in the accumulation in the blood of a simple amino acid and its blood metabolic products. This leads to disruption of the functioning of the epidermis in the body as well as its ability to spread rapidly and even into the brain.2. Diet in phenylketonuria
The main rule of the diet for phenylketonuria is to eliminate protein products because they contain high levels of phenylalanine. Patients should not consume meat, fish, eggs, milk, poultry, pulses, plant seeds, nuts, cocoa and whole grain products. The diet should also not include aspartame-sweetened products because it is converted into phenyloalanine in the body. The second group of products is those that can be found in the diet in moderate amounts. They should also be fed dietary amino acids and fruit and a special dose of low-fat dietary products (e.g. fish, macadamia, wheat, etc.).3. Galactosemia symptoms and treatment
Galactosemia is a genetic disease resulting from a lack of enzymes that convert 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.4. Diets in the galaxy
The main premise of the diet in galactosemia is the elimination of products containing galactose and lactose. Newborns and infants cannot consume breast milk, so 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, soybeans and finished products containing dairy products (e.g. cakes, cereals, milk chocolate, sauces).5. Fructosemia symptoms and treatment
Fructose is another disease with a genetic basis. It is a deficiency or lack of the enzyme responsible for the metabolism of fructose, sucrose and sorbitol. The first symptoms usually occur during the expansion of the diet, when the child begins to eat vegetables and fruits. It mainly affects the digestive system.6. Diet in fructose
Fructose must be completely excluded from the diet by sick people. It is naturally present in fruits, flower nectar and honey. In addition, it is present in sugar (white and garlic), clone syrup, juices and fruit preparations. It also contains products that contain glucose-fructose syrup. Sweets, sweetened alcohols, beverages and certain types of baked goods should therefore be eliminated.7. Mycobacteriosis symptoms and treatment
Mucoviscidosis is a disease that develops as a result of a genetic mutation. The main symptom is an overproduction and attachment of the mucous membrane in the respiratory system, which disrupts the functioning of the digestive, respiratory and reproductive systems. In the gastrointestinal system, the flow of pancreatic enzymes is blocked, which hinders the digestion and absorption of nutrients.8. Diets with mycosis
The purpose of diethotherapy in cystic fibrosis is to maintain normal body weight and prevent malnutrition. Patients have a significantly higher daily energy requirement than healthy people. It results from impaired digestion and absorption, as well as increased breathing and coughing effort. Frequent infections with a high fever also increase basic metabolism. Therefore, the main rule of metabolism in the liver is a high-calorie diet.9. Summary
Diseases such as phenylketonuria, galactosemia and fructosemia require strict control of the products consumed. The earlier an elimination diet is introduced, the less likely it is to cause serious disorders and complications. It should be emphasized that the lack of dietary modification for these diseases leads to death.
