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

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Cites:

1

Information Journal Paper

Title

Tay-Sachs Disease, Report of 6 Iranian Patients and Review of Literature

Pages

  35-38

Abstract

 Patients Information Tay-Sachs is a rare genetic-metabolic disease inherited by autosomal recessive inheritance. The reason for appearance of this disease is a defect in ß-hexosaminamide A enzyme and the accumulation of glycosphingolipid in cell lysosomes. The disease is characterized by progressive weakness, loss of motor skills, increased motor response, and decreased consciousness from about 3 to 6 months. Seizure, blindness, and evidence of progressive neurological degeneration are observed in almost all patients as bilateral Cherry Red Spot on ophthalmoscopy. In this study, 6 children with Tay-Sachs were reported with the above symptoms. An enzyme study was performed on them, with a significant decrease in ß-hexosaminamide A enzyme levels in all patients. Conclusion To prevent the recurrence of Tay-Sachs disease, ß-hexosaminidase A activity measurement by molecular and genetic methods and the investigation of mutations in the Hexosaminidase gene are necessary. Thus, with prenatal diagnosis, we can prevent the birth of another affected offspring with the consent of the parents.

Cites

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    • Cite

    APA: Copy

    HADIPOUR, Z., SHAFEGHATI, Y., TONEKABONI, H., Verheijen, F.W., ROLFS, A., & HADIPOUR, F.. (2018). Tay-Sachs Disease, Report of 6 Iranian Patients and Review of Literature. SAREM JOURNAL OF MEDICAL RESEARCH (SAREM JOURNAL OF REPRODUCTIVE MEDICINE), 2(4 ), 35-38. SID. https://sid.ir/paper/401514/en

    Vancouver: Copy

    HADIPOUR Z., SHAFEGHATI Y., TONEKABONI H., Verheijen F.W., ROLFS A., HADIPOUR F.. Tay-Sachs Disease, Report of 6 Iranian Patients and Review of Literature. SAREM JOURNAL OF MEDICAL RESEARCH (SAREM JOURNAL OF REPRODUCTIVE MEDICINE)[Internet]. 2018;2(4 ):35-38. Available from: https://sid.ir/paper/401514/en

    IEEE: Copy

    Z. HADIPOUR, Y. SHAFEGHATI, H. TONEKABONI, F.W. Verheijen, A. ROLFS, and F. HADIPOUR, “Tay-Sachs Disease, Report of 6 Iranian Patients and Review of Literature,” SAREM JOURNAL OF MEDICAL RESEARCH (SAREM JOURNAL OF REPRODUCTIVE MEDICINE), vol. 2, no. 4 , pp. 35–38, 2018, [Online]. Available: https://sid.ir/paper/401514/en

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