INTRODUCTION-Purpose: Phenylketonuria disease has been included in the National Newborn Screening Program in our country since 2006.

is being scanned. With this screening, phenylketonuria patients can be diagnosed, and blood phenylalanine level can be detected secondaryly.

It is also possible to diagnose other metabolic diseases that increase blood pressure. In this study, in the last 9 years

Cases referred to us with suspicion of phenylketonuria and diagnosed with another metabolic disease were examined.

Materials-Methods: In our study, National Newborn Screening was conducted between January 2013 and December 2021.

Among the cases referred to us with suspicion of phenylketonuria from the program, other metabolic

Demographic, clinical and laboratory findings of the cases diagnosed with the disease were examined retrospectively.

Results: The study included patients with suspected phenylketonuria from the National Newborn Screening Program between January 2013 and December 2021.

2516 cases who applied to us were included. Of these cases, 38 (1.5%) patients were diagnosed with a different metabolic disease. 42% are girls, 58%

It was male. Mean phenylalanine values were 6.8 mg/dl (N<2 mg/dl). Elevated levels of phenylalanine in the cases,

It was attributed to secondary effects on amino acid metabolism. There was consanguinity between the parents of 17 (61.5% N=26) cases.

was available. 14 of the patients had galactosemia, 8 had maple syrup urine disease (MSUD), 4 had 6-pyruvoyyltetrahydropterin synthase deficiency.

deficiency (PTPS), 4 with dihydropteridine reductase deficiency (DHPR), 3 with tyrosinemia, 3 with urea cycle defect, 2 with hyperlipidemia.

Treatment was started. 18 of the cases (69% N=26) had a history of hospitalization. Galactosemia cases occur most frequently in an average of 7.5 days.

jaundice, weight loss, malnutrition; MSUD cases occur on average in 9.5 days, and the most common symptoms are inability to feed, tendency to sleep, and sepsis-like symptoms.

He came with his complaints. The average age at diagnosis of cases with galactosemia is 20 days; In cases with MSUD, it was 14 days.

Conclusion: Phenylketonuria screening included in the national newborn screening is useful for diagnosing different metabolic diseases.

has become a tool. The patient who came with a pathological result in the newborn screening was examined not only in terms of phenylketonuria but also holistically.

should be evaluated. If these diseases can be diagnosed early and treated with the expanded newborn screening program in our country,

If started, mortality and morbidity due to these diseases can be reduced.