Phenylketonuria is an autosomal recessive inherited disease. In other words, in order for the disease to occur, both the mother and the father must be carriers of this disease.
Diseased Babies Are Healthy at Birth
Due to the high rate of consanguineous marriages in our country, it is seen at a higher rate than European countries and America. Approximately 300 phenylketonuria babies are born in our country every year and its incidence is calculated as one in 3,000-4,000 newborns. The disease is caused by a disorder in the metabolism of phenylalanine. Phenylalanine is an amino acid that is necessary for our body and must be taken with food, that is, a protein building block. The diagnosis of the disease is easily made by detecting the increase in blood phenylalanine level in newborn screening tests. For this, a few drops of blood are taken from the heels of newborn babies in our country, on special papers called Guthrie Cards, before the baby is discharged from the hospital. Diseased babies are healthy at birth. ”
They Become Blonde and Blue Eyed
Phenylalanine crosses the blood-brain barrier when its level in the blood rises, causing impaired brain development and neurological damage. ” If these babies are not diagnosed and treated in the early period, irreversible brain damage, mental retardation, developmental delay, seizures, involuntary contractions, gait disorders, hyperactivity, self-harm, autistic behavior disorders are seen. The urine of these children is foul-smelling due to phenylalanine metabolites, and this odor is likened to the odor of mouse urine. Untreated children with phenylketonuria gradually decrease in pigmentation in the hair, skin and eyes, and these children become blonde, thin-haired and blue-eyed. The most important point of treatment is to detect these children in the early period and to give a restricted diet from phenylalanine starting from the first days of life. These babies can be fed with breast milk by using phenylalanine-free medical formulas together with breast milk and by closely monitoring blood phenylalanine values.