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Phenylketonuria is an inherited metabolic disease that occurs as a result of the absence or very low activity of phenylalanine hydroxylase, which converts phenylalenine, an essential amino acid taken with food, into tyrosine. Its incidence in Turkey is approximately 1/3500. It is inherited in an autosomal recessive manner.

Since phenylalanine cannot be used in the body, it accumulates in large amounts and is converted into phenylpyruvic acid or phenylethylamine by other means. These substances and their metabolic products disrupt normal metabolism and cause brain damage. For the disease to occur, both parents must be carriers and/or sick (carriers have no symptoms of the disease). Therefore, the risk is higher in consanguineous marriages. If both parents are carriers, there is a 25% risk that their child will be born with the disease.

Phenylketonuria disease
It is a metabolic disease that can be treated if identified in the neonatal period, otherwise it causes severe neurological and developmental disorders and mental retardation. Delay in diagnosis and treatment and compliance with treatment are the most important factors that determine the severity of the disease. What to do to diagnose the disease is quite easy, cheap and practical. Guithrie’s bacterial inhibition test, a screening test, is used to detect elevated phenialanine levels in the blood during the neonatal period. A few drops of blood are sufficient for examination. In babies with phenylketonuria disease, the blood phenylalene level may increase to levels that will make the test positive in the first 4 hours following feeding immediately after birth. However, to reduce the possibility of false negatives, it is appropriate to perform the test after 3 days of feeding. In babies with a positive Guithrie test, the presence of phenylketonuria disease should be confirmed by determining the plasma phenylalanine level by chromatographic methods after the first week. Phenylketonuria is a disease that can be diagnosed prenatally. For this, DNA examinations in amniotic fluid cells or chorionic villi are required.

In Turkey, the phenylketonuria screening test is performed free of charge in all health institutions, by absorbing a drop of blood from the heel of newborns onto a test paper and sending it to the Ministry of Health. In order to eliminate the risk of false negatives, it is recommended that the test be repeated in health centers at the age of 1 – 2 weeks for all babies. Those whose results are questionable and those who are found to have a disease are informed as soon as possible through health centers and are directed to university hospitals for follow-up and treatment planning.

Clinical Findings
Babies with phenylketonuria disease are clinically completely normal at birth. One of the earliest symptoms is vomiting. Another early symptom is urine and sweat smelling like mice and/or mold. In untreated cases, nervous system symptoms begin to appear at the age of 4 months and gradually increase over time. Most of them have severe mental and neurological developmental delay. Hyperactivity, increased muscle tone, tremor, and convulsive seizures are observed in 25%. Most patients have light hair, skin and eyes due to the defect in melanin synthesis.

The only treatment currently available for phenylketonuria disease is lifelong nutrition with appropriate foods. The aim when regulating nutrition is; On the one hand, it is to prevent or minimize brain damage, and on the other hand, to provide sufficient phenylalanine for growth and development without causing hyperphenylalaninemia through diet. Therefore, as soon as the diagnosis is made; Diets low in phenylalanine and containing other amino acids in normal proportions are designed. Treatment of a baby with phenylketonuria; It lasts a lifetime and growth and development monitoring and diet adjustment according to age and needs should be done in centers with sufficient experience and equipment in this regard.

Dear parents;
In order to diagnose this treatable disease, please do not forget to have all your newborn babies take the Guithrie test (popularly known as an intelligence test), which is very simple and available free of charge in all hospitals and health centers in our country.

Since phenylalanine cannot be used in the body, it accumulates in large amounts and is converted into phenylpyruvic acid or phenylethylamine by other means. These substances and their metabolic products disrupt normal metabolism and cause brain damage. For the disease to occur, both parents must be carriers and/or sick (carriers have no symptoms of the disease). Therefore, the risk is higher in consanguineous marriages. If both parents are carriers, there is a 25% risk that their child will be born with the disease.

Phenylketonuria disease is a metabolic disease that can be treated if identified in the neonatal period, otherwise it causes severe neurological and developmental disorders and mental retardation. Delay in diagnosis and treatment and compliance with treatment are the most important factors that determine the severity of the disease. Diagnosis of the disease

What to do is quite easy, cheap and practical. Guithrie’s bacterial inhibition test, a screening test, is used to detect elevated phenialanine levels in the blood during the neonatal period. A few drops of blood are sufficient for examination. In babies with phenylketonuria disease, the blood phenylalene level may increase to levels that will make the test positive in the first 4 hours following feeding immediately after birth. However, to reduce the possibility of false negatives, it is appropriate to perform the test after 3 days of feeding. In babies with a positive Guithrie test, the presence of phenylketonuria disease should be confirmed by determining the plasma phenylalanine level by chromatographic methods after the first week. Phenylketonuria is a disease that can be diagnosed prenatally. For this, DNA examinations in amniotic fluid cells or chorionic villi are required.

In Turkey, the phenyl ketonuria screening test is performed free of charge in all health institutions, by absorbing a drop of blood from the heel of newborns onto a test paper and sending it to the Ministry of Health. In order to eliminate the risk of false negatives, it is recommended that the test be repeated in health centers at the age of 1 – 2 weeks for all babies. Those whose results are questionable and those who are found to have a disease are informed as soon as possible through health centers and are directed to university hospitals for follow-up and treatment planning.

Babies with phenylketonuria disease are clinically completely normal at birth. One of the earliest symptoms is vomiting. Another early symptom is urine and sweat smelling like mice and/or mold. In untreated cases, nervous system symptoms begin to appear at the age of 4 months and gradually increase over time. Most of them have severe mental and neurological developmental delay. Hyperactivity, increased muscle tone, tremor, and convulsive seizures are observed in 25%. Most patients have light hair, skin and eyes due to the defect in melanin synthesis.

Treatment
The only treatment currently available for phenylketonuria disease is lifelong nutrition with appropriate foods. The aim when regulating nutrition is; On the one hand, it is to prevent or minimize brain damage, and on the other hand, to provide sufficient phenylalanine for growth and development without causing hyperphenylalaninemia through diet. Therefore, as soon as the diagnosis is made; Diets low in phenylalanine and containing other amino acids in normal proportions are designed. Treatment of a baby with phenylketonuria; It lasts a lifetime and growth and development monitoring and diet adjustment according to age and needs should be done in centers with sufficient experience and equipment in this regard.

Dear parents; In order to diagnose this treatable disease, please do not forget to have all your newborn babies take the Guithrie test (popularly known as an intelligence test), which is very simple and available free of charge in all hospitals and health centers in our country.