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Longitudinal study on early diagnosis and treatment of phenylketonuria in Poland
M B Cabalska1, I Nowaczewska, E Sendecka
1National Research Institute of Mother and Child, Warsaw, Poland.
Insights
Early diagnosis and treatment of phenylketonuria (PKU) in Poland, initiated in 1965, shows that good dietary control leads to normal physical development and better IQ scores in adults. Poor control results in lower cognitive function.
Area of Science:
- Medical Genetics
- Pediatrics
- Metabolic Disorders
Background:
- Phenylketonuria (PKU) is a rare genetic disorder.
- Early diagnosis and intervention are crucial for managing PKU.
- Poland initiated a PKU screening program in 1965.
Purpose of the Study:
- To review the history and outcomes of PKU diagnosis and treatment in Poland.
- To assess the long-term effects of dietary management on physical and cognitive development.
- To analyze the correlation between dietary adherence and intellectual outcomes.
Main Methods:
- Newborn screening using Guthrie tests.
- Confirmatory diagnosis via blood phenylalanine (Phe) and tyrosine estimation.
- Longitudinal monitoring of physical, mental, and biochemical development.
Main Results:
- Detected 560 classical PKU, 99 mild hyperphenylalaninemia, and 6 atypical PKU cases.
- Treated patients showed normal physical development.
- Adults with good dietary control had higher mean IQ scores (97.2) compared to poorly controlled individuals (81.0).
Conclusions:
- Early and consistent dietary management is vital for optimal outcomes in PKU patients.
- Long-term adherence to a low-phenylalanine diet significantly impacts cognitive development.
- PKU screening and treatment programs are essential for preventing severe intellectual disability.
Abstract:
Early diagnosis and treatment of phenylketonuria (PKU) in Poland was started in 1965, initially on a voluntary and then on a obligatory basis. Guthrie tests have been used for newborn screening. For confirmation of diagnosis changing with time methods of blood phenylalanine (Phe) and tyrosine estimation were used. In addition, Phe and its urinary metabolites were estimated. A total of 560 cases of classical PKU, 99 mild hyperphenylalaninaemia and six atypical PKU cases were detected. The age of confirmatory estimations was from the 1st to 3rd month, in some cases above 3 months. Pretreatment Phe levels ranged from 12.5 to 70.7 mg/dl. The diet was started on a hospital basis and continued at home, controlled with Guthrie tests with age dependent frequency. Periodical multidimensional controls allowed evaluation of physical and mental development, together with biochemical scores (Hb, RBC, total plasma protein, Phe and tyrosin). In some patients trace elements (copper, iron, zinc and selenium) were also determined. Physical development of treated patients was normal. Biochemical scores presented transient relatively low Hb and iron concentrations especially in the youngest patients. DQ/IQ scores correlated with dietary control and social environment. In adults (age 19-26 years) off diet, mean IQ was 97.2 +/- 15.5 in those with good dietary control and 81.0 +/- 13.8 in those poorly controlled during treatment. In adults the average level of education attained was various types of professional school. Some patients attended or graduated from university.