ABSTRACT

Objectives

In this study, it was aimed to evaluate the clinical, demographic, and laboratory data of the patients we followed up with late diagnosed phenylketonuria (PKU). In addition, the relationship between the age of onset of treatment and neuromotor development will be evaluated.

Materials and Methods

In this study, patients diagnosed with PKU and followed in the Pediatric Metabolism Outpatient Clinic were retrospectively examined. Cases diagnosed late were evaluated.

Results

We determined that 25 of our patients with PKU received a late diagnosis. Of these patients, 19 had classical PKU, and 6 had a mild PKU phenotype. Eight of our cases were female and 17 were male. The mean age at diagnosis of patients was 26.3}38.1 (range, 2-192) months. The mean age of the patients at the last evaluation was calculated to be 13.1}5.3 (range, 3.8-21.3) years. At the last evaluation, the phenylalanine level of the patients was 465.3}275.7 μmol/L in mild PKU and 779.1 ± }449.4 μmol/L in classical PKU. Fifteen of our cases had global developmental delay, six had moderate developmental delay, and four had mild developmental delay. Twenty-one of our cases received diet therapy, and four of our cases received large neutral amino acid therapy.

Conclusion

It causes severe neurological problems in patients who are diagnosed late or undiagnosed. Therefore, close follow-up is important in the diagnosis and treatment phase of the disease. Close follow-up is essential to ensure that patients diagnosed with PKU can receive their treatment in the early period.