| خلاصه مقاله | Introduction: Phenylketoneuria (PKU) is an autosomal recessive genetic disease induced by the defective function of phenylalanine hydroxylase enzyme or its cofactor, Tetrahydrobiopterin deficiency. If untreated, one of the effects of this disease is myelin production defects, which results in central nervous system.
Patients And Methods: In a descriptive cross-sectional study, a group consisting of 50 children with PKU was compared with 50 healthy children, in terms of the ABRs and OAE and their affecting factors.
Results: In this study, out of 50 children with PKU, 36 patients received early treatment and 14 patients received delayed treatment. The average serum level of phenylalanine, at the onset of treatment was 19.7 mg/dl, and the average distance of the onset of treatment from birth was 87.9 days. Results of ABRs in the patient group compared to normal values confirms the relative delay) though generally in the normal range in the intervals between the waves I-III, III-V and I-V. The amount of delay in wave intervals in the early treatment group was less than that of the delayed treatment group.
Conclusion: The results of this study showed that early treatment, compared to delayed treatment, can better help the evolution and functioning of the central nervous system and the electrophysiological hearing tests including the ABR can help as a diagnostic tool in the pursuit of this evolutionary process. |