Nutrition is the use of nutrients necessary for growth, development, healthy life and physical activity in the organism through metabolic or biochemical means. The use of nutrients in the organism is not a simple event, but a series of complex events catalyzed by enzymes. Some of the diseases that develop due to enzyme deficiency/absence due to gene defects can be treated by removing unmetabolized nutrients from the diet or restricting their amounts. Most of the metabolic disorders that occur in the neonatal period are severe diseases. If specific effective treatment is not started immediately, death may result. In recent years, prenatal diagnosis is possible in many hereditary metabolic diseases with DNA examinations.
Treatment Methods in Genetic and Metabolic Diseases:
1. Removal or inactivation of toxic compounds
• Mechanical removal
• Reducing toxic compounds in the diet as much as possible,
• Removing toxic compounds from the blood with drugs,
2. Giving the missing product
3. Increasing enzyme activity with co-enzymes (limited success)
4. Deficiency replacement of the missing enzyme (not yet successful in all cases)
5. Replacing the genetic structure of the diseased cell with a normal cell
• Organ transplantations,
• Bone marrow transplantation (in trial phase),
• Somatic gene therapy
Prader-Willi syndrome (PWS) is a morbid disease due to mental retardation, affective disorder (emotional instability), loss of muscle strength and hypotonus (muscle laxity), short stature and appetite disturbance. It is a rare genetic disease where obesity is observed. The disease takes its name from three physicians who first described the syndrome in 1956 (Prader, Labhart and Willi). Although the incidence of the disease varies, it can be considered as one in every 16,000 live births (1/16,000). This situation is seen equally among boys and girls. Although it is generally a genetic and congenital syndrome, damage to the hypothalamus after birth can also cause the formation of this syndrome. The genetic cause of this syndrome is the lack of genetic material that must be present in the region between segments 11 and 13 on the long arm of the paternal chromosome 15. This is. Since the genes that cause Prader-Willi syndrome are suppressed in the maternal copy of the same chromosome, the disease is dominantly transmitted. The fact that the missing region is on the 15th chromosome inherited from the mother causes a completely different disease, Angelman syndrome. The reason for this situation is that the chromosome region in question is suppressed differently in the maternal and paternal genome.
Newborn children with PWS are usually hypotonic (muscles are loose). Respiratory and feeding problems are common in the neonatal period. Many of them need to be fed by tube during this period. A very distinctive feature in people with PWS is a major increase in appetite, which occurs between the ages of one and four and persists throughout life. Excessive obesity, which is harmful to health, is prevented through a low-calorie diet and physical activities. Excessive obesity can hinder physical activity and lead to social exclusion. While excess fat accumulation is especially concentrated in the chest and under the chest (central fat), the arms and legs may remain weak. Excessive obesity can lead to heart/lung diseases, diabetes, and worst of all, premature death. Psychomotor development is delayed. Children generally walk without support after they turn two years old, and they start talking at the age of three or four or later. The ability to comprehend words is often better than the ability to express themselves verbally. Many have learning difficulties. Many learn to read, but have trouble with calculations and abstract thinking. Young children with PWS are generally cheerful and calm. Over time, many develop a tendency to explode in anger and grief, which may seem incomprehensible to others. This occurs especially during sudden changes in routine, such as attempts to reduce the amount of food consumed. Most people with PWS are similar in appearance and have relatively narrow, expressionless faces, with their mouths open and the corners of their lips hanging down. They are seen to have lighter hair and skin than their siblings/parents. Many have strabismus or other visual impairments. Its eyes are almond-shaped. Many have small hands and feet. Their sexual organs are usually underdeveloped and puberty development is incomplete or delayed. must be settled. Height growth is low.
Genetic analysis in Prader-Willi syndrome should be recommended to patients only as diagnostic tests, since the disease is rare and there is no method for treatment in patients yet. Genetic analysis is the most accurate method in the early diagnosis and differential diagnosis of the disease. There is no cause-based treatment for PWS, but early and continuous nutritional monitoring along with adequate physical exercise appropriate to the person's condition is important. Many patients are treated with growth hormone to achieve the desired height increase and muscle mass. This syndrome causes a variety of difficulties with learning, communication, motor and social function. Physical therapy and speech therapy should be started immediately to improve motor skills. Because of their high pain threshold, microbial conditions are difficult to detect. For this reason, they need to be constantly monitored. The family should receive training on coping with behavioral problems that may arise in the future.
Nutritional Therapy:
In some metabolic and genetic diseases, the only treatment currently applied is nutritional therapy. It is based on removing toxic nutrients from the diet or reducing their amount. In almost all metabolic diseases, it is necessary to restrict the intake of the substance whose metabolism is impaired, in other words, the main element causing the disorder. Diet should stop the worsening course of the disease. Otherwise, an unnecessary and expensive treatment would be applied. Diet should not adversely affect growth and development. If nutritional treatment is carried out in cooperation with the DIETITIAN, DOCTOR, NURSE and FAMILY, with the help of biochemical parameters, a successful application can be achieved with good training and the disease can be controlled.
Main Principles in the Diet of Patients with Hereditary Metabolism-Genetic Diseases
Protection of the central nervous system, Ensuring normal physical development, Correction of biochemical parameters, Providing the necessary amount of protein, energy, vitamins, minerals and trace elements with the diet ,Ensuring that the diet is acceptable for the patient in terms of taste and variety, eliminating the monotony of the diet with change lists, and most importantly, keeping the patient satisfied, Children need to be informed about the disease and lifelong education should be continued with appropriate follow-ups.
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