مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

video

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

sound

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Persian Version

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

View:

93
مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Download:

34
مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Cites:

Information Journal Paper

Title

Clinical and Paraclinical Characteristics of Non-Classic Phenylketonuria

Pages

  131-138

Abstract

 Objective: Phenylketonuria (PKU) is one of the most common inherited metabolic diseases, which is classified into classic and non-classic types. It is estimated that 2% of children with PKU develop a severe and progressive neurological disease, called non-classic (malignant) PKU. This study aimed to demonstrate the clinical features, laboratory findings, and diagnostic/therapeutic characteristics of Non-classic PKU patients referred to a tertiary referral center for children in Tehran, Iran. Materials & Methods: In this study, background information, such as gender and age, clinical manifestations, laboratory findings, and response rate to conventional treatment, was investigated in patients with Non-classic PKU, who were referred to Mofid Children’ s Hospital in Tehran, Iran, through neonatal screening. Results: Twenty patients with a diagnosis of Non-classic PKU were included in this study. The mean age of the patients was 6. 00± 2. 81 years (range: 2-12 years), and 45. 0% were male. In patients with a late diagnosis, the most common presentations were motor developmental delay (15. 0%), skin and cutaneous manifestations (15. 0%), seizure (5. 0%), and restlessness (5. 0%). The overall response rate to treatment was 85. 0%. Factors that predict good response to treatment included female gender, higher neopterin level, and lower age at diagnosis and management. Conclusion: In conclusion, about half of patients with Non-classic PKU remain asymptomatic, which is due to early diagnosis via neonatal screening. Also, higher age at diagnosis and treatment, besides low neopterin levels, may be useful as prognostic factors.

Cites

  • No record.

    • References

  • No record.

    • Cite

    APA: Copy

    SHAKIBA, MARJAN, SANEIFARD, HEDYEH, ALAEI, MOHAMMADREZA, MOSALLANEJAD, ASIEH, LOTFI, Mojtaba, YASAEI, Mehrdad, & ALIZADE NADERI, Elahe. (2021). Clinical and Paraclinical Characteristics of Non-Classic Phenylketonuria. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 15(3), 131-138. SID. https://sid.ir/paper/686025/en

    Vancouver: Copy

    SHAKIBA MARJAN, SANEIFARD HEDYEH, ALAEI MOHAMMADREZA, MOSALLANEJAD ASIEH, LOTFI Mojtaba, YASAEI Mehrdad, ALIZADE NADERI Elahe. Clinical and Paraclinical Characteristics of Non-Classic Phenylketonuria. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2021;15(3):131-138. Available from: https://sid.ir/paper/686025/en

    IEEE: Copy

    MARJAN SHAKIBA, HEDYEH SANEIFARD, MOHAMMADREZA ALAEI, ASIEH MOSALLANEJAD, Mojtaba LOTFI, Mehrdad YASAEI, and Elahe ALIZADE NADERI, “Clinical and Paraclinical Characteristics of Non-Classic Phenylketonuria,” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 15, no. 3, pp. 131–138, 2021, [Online]. Available: https://sid.ir/paper/686025/en

    Related Journal Papers

  • No record.

    • Related Seminar Papers

  • No record.

    • Related Plans

  • No record.

    • Recommended Workshops






    Move to top
    telegram sharing button
    whatsapp sharing button
    linkedin sharing button
    twitter sharing button
    email sharing button
    email sharing button
    email sharing button
    sharethis sharing button