According to experts, thanks to the test with blood taken from the baby’s heel within the first 72 hours after birth, early diagnosis and precaution can be taken for the “Phenylketonuria” disease that causes mental retardation.
Prof. Dr. Kırıkkale University (KU) Faculty of Medicine, Chair of the Division of Child Metabolism Diseases, which warns families not to neglect to take tests. Dr. Selda Bülbül reported that the diagnosed babies grew completely healthy with a simple diet therapy.
Professor Dr. Nightingale made statements about “Hereditary metabolic disease” Phenylketonuria.
Stating that this disease can be prevented thanks to a test with a drop of heel blood from new babies who have opened their eyes to the world, Bülbül stated that every mother giving birth should be sensitive to this test.
Noting that the heel blood test must be done within the first 72 hours after birth, Bülbül said, “Phenylketonuria is inherited in the group of hereditary metabolic diseases. Our people generally know this as an” intelligence test. “After the test, babies diagnosed with phenylketonuria are completely healthy with a simple diet therapy. Otherwise, the disease affects the intelligence of the baby within a year, causing it to grow as a completely mentally disabled individual in the future. “
Explaining that the levels of phenylalanine in the blood of infants diagnosed with diet therapy are kept under control, Bülbül warned that the test and diet should not be neglected.
Attention to consanguineous marriage!
Professor Dr. Bülbül emphasized that consanguineous marriage has a role in the emergence of such hereditary diseases and stated the following information:
“One of every 5 marriages in our country is a consanguineous marriage. It is necessary to stay away from consanguineous marriages, to investigate the family tree and disabled people if this is not possible. Those who want to have children in the family should definitely tell their physicians about this situation. If we know this, the mother should be more careful during pregnancy. We can diagnose and treat the baby as soon as we are born, when we pass the necessary tests and advanced screenings. ”
Bülbül, who advises families about overly active children with signs of mental retardation, who has not been diagnosed, said, “We are getting positive developments in patients we started treatment, albeit late. The intelligence of these patients is never like other children, but with the improvement in their behavior, at least the quality of life of the family and the child increases. Parents need to be extremely conscious about this. Therefore, examination of children with mental retardation and excessive mobility in a center with metabolism clinic
It is useful to be said. ” (AA)