Pediatrician Dr. Sevda Asadova gave information about phenylketonuria, a hereditary metabolic disease that is passed from mother and father to the baby. Dr. Dr. For this reason, Asadova said it has been included in the routine newborn screening program since 2006. He stated that in this disease, the amino acid “phenylalanine”, the building block of protein, cannot be metabolized and accumulates in the blood, affecting the baby’s rapidly developing brain tissue and causing irreversible brain damage, and in babies whose treatment is not started, the signs of the disease begin to become apparent from the 2nd and 3rd month of life.
“Development lag is seen”
The symptoms of the disease are “light hair and skin, eye color, vomiting, musty (rat-dead) odor in urine and sweat, seizures, head growth retardation, spasticity, eczema-like skin lesions, mental behavior disorders, autistic behavior changes and defective tooth structure” stated as Dr. Asadova stated that the babies were born normally and that the first sign was “vomiting”; He explained that the disease was noticed by checking the baby’s head around 3 months, sitting on 6 months and delayed walking at 1 year old He added that apart from phenylketonuria, premature birth, intravenous nutrition containing amino acids, liver disease, kidney failure, infection and burns of more than 20 percent, the level of FA in the blood after 7- Increase 10 days.
“Basic treatment is based on nutrition”
Dr. Asadova said the main treatment is based on specially formulated diets and foods that do not contain phenylalanine.
Claiming that foods high in phenylalanine such as meat, fish, chicken, eggs, milk, yogurt, cream, rice and corn, and sweeteners such as aspartame are not recommended in the diet, they can be given with a small amount of formula, since the amount in breast milk is low. Asadova also pointed out that there are several enzyme-based treatment methods. He also stated that in case of illness and trauma, a high-calorie diet is given to prevent the destruction of body proteins due to catabolism.
Dr. Asadova said: “We have come to such a period where we started monitoring the babies of mothers with phenylketonuria. These mothers are followed in experienced centres, treatment is started before pregnancy and blood FA levels are kept below 360 mmol/l. Babies born to mothers with high blood phenylalanine have low birth weight, dysmorphic face, delayed growth after birth, microcephaly, intelligence and developmental disorders, congenital heart disease.
Dr Asadova said girls with phenylketonuria should be educated from an early age about phenylketonuria, which can be seen in motherhood.