What is Phenylketonuri? How is it diagnosed?

What is Phenylketonuri? How is it diagnosed?

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Although phenylketonuria occurs in every 10,000-30,000 newborns in the USA and many European countries, it occurs in one of the 3,000-4,000 newborns in our country. German Children's Hospital Specialist for Child Health and Diseases Alper Soysal with the increase in protein in the body mental retardation It draws attention to the importance of early detection of phenylketonuria.

: - What is phenylketonuria?
Dr. Contact Alper directly Phenylketonuria is one of the rare inherited metabolic diseases. A child who receives defective genes whose parents do not cause illness is born with phenylketonuria. If the parents are carriers, the chance of being seen in each child of this couple is 25%. Phenylketonuriais still not known enough in our society and if left untreated, causes the child to be disabled for life. Children born with this disease cannot digest an amino acid called phenylalanine found in protein foods, which ultimately accumulates in blood and other body fluids. phenylalanine and its debris destroys the child's developing brain, leading to severe mental retardation and many other symptoms of the nervous system. Although phenylketonuria is seen in every 10,000-30,000 newborns in America and many European countries, it is seen in 3,000-4,000 newborns in our country. Turkey is one of the nation's most prevalent diseases of phenylketonuria. Frequent marriages in our country lead to a high frequency of follow-up of such diseases in which the parents are carriers. Although consanguineous marriage increases the incidence of the disease, children of unrelated individuals may also be born with illness. Because three of the four of every 100 people in Turkey remains a carrier of this disease.

: - How is it diagnosed?
Dr. Contact Alper directly Infants with phenylketonuria in the first few months of life cannot be distinguished from healthy infants. phenylketonuria children After 5-6 months the decline in intelligence becomes apparent. Unlike their peers, they cannot acquire skills such as sitting, walking and speaking. Since their brain development is not normal, their heads remain small. In addition, vomiting, excessive hands, arms, head movements, seizures, rashes on the skin, smell of urine and sweat like mold are important symptoms of the disease. In 60% of these children, eyes, eyebrows and skin color are lighter than parents.

: - When is it possible to make a definitive diagnosis?
Dr. Contact Alper directly Early recognition of the baby born with phenylketonuria without affecting the brain is very important. There is a screening test that can be applied to every newborn child developed for this purpose. 72 hours after birth 2 drops of blood on a special filter paper is sufficient for diagnosis. When the infant is diagnosed in the first days of life, it is imperative that all newborns should be screened for phenylketonuria in developed countries because appropriate mental therapy can prevent mental retardation.

: - What kind of diet?
Dr. Contact Alper directly Phenylketonuria early diagnosis is a disease that can be treated. The general principle of treatment is to reduce the amount of phenylalanine taken with foods and to keep blood phenylalanine levels within normal limits. Dietary therapy requires the use of special and pharmaceutical formulas and medicinal products that have reduced phenylalanine or do not contain phenylalanine. If phenylketonuria is detected by neonatal screening and treatment is not started in the first 3 months, it is inevitable to develop mental disability that matches the severity of the disease. Beginning treatment as early as possible will have a positive effect on mental performance.

Nutritional status of the patient should be evaluated at regular intervals, blood phenylalanine and tyrosine levels should be measured and diet should be adjusted according to the measurement levels, and mental development should be monitored. Blood phenylalanine levels should be measured twice a week in the first 2 years, once a week between 2-4 years, once every 15 days for 4-10 years and then once a month. Blood phenylalanine levels should be kept between 2-6 mg / dl between 0-12 years, 2-11 mg / dl after 12 years and 2-4 mg / dl during the pregnancy of the patient with phenylketonuria.

: - How long does the diet last?
Dr. Contact Alper directly Although the treatment should be performed very well during the first 8-10 years of life, at least when the brain tissue develops the fastest, the diet should be lifelong. Patients with phenylketonuria who have started dietary therapy in the neonatal period develop difficulty in perception and decreased attention if they quit dieting as adults.

: - Should children with this disease be breastfed?
Dr. Contact Alper directly Breast milk is a necessary food for the growth and development of infants. Also babies with phenylketonuria breast milk together with phenylalanine-free mixtures (medicinal formula) and blood phenylalanine values ​​can be fed by closely monitoring. Studies show that growth and mental development are better in infants with phenylketonuria who are breastfed during the first years of life.

: - What are the points that families should pay attention to?
Dr. Contact Alper directly The only treatment of this disease in our time is the restricted diet of phenylalanine, which needs to be monitored by a team of family physicians, pediatricians, dieticians and laboratory specialists specialized in metabolic diseases. Since the patients who do not comply with the treatment may have mental and developmental disorders, the families of the patients should learn the diet very well. If the first child of the mother was born with a disease, it may be possible to determine whether the second baby is sick while the mother is still in the womb.

: - Are there any centers where families can apply?
Dr. Contact Alper directly Tarama Association for Screening and Protection of Children with Phenylketonuria bulunan, which is engaged in activities to prevent mental retardation due to phenylketonuria, is making efforts to screen every child born in our country in terms of this disease with the organization of the Ministry of Health. The association branch of Istanbul University Faculty of Medicine in Istanbul and Marmara region, the Izmir branch of Dokuz Eylul University Faculty of Medicine in Izmir province and Aegean Region, and in other regions of Ankara Hacettepe University Faculty of Medicine conducts screening program. In addition to the nationwide association that provides screening support, the Phenylketonuria and Similar Children with Metabolic Disease Foundation (METVAK) has been established to provide support for patients and all kinds of financial assistance to families with children with phenylketonuria but who are not financially viable. Istanbul University Istanbul Medical Faculty Department of Child Health and Diseases:
WIRE: 0.212.635 07 56 - 635 09 98
FAX: 0.212.631 18 61

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