Volume 2, Issue 4 (2017)                   SJRM 2017, 2(4): 35-38 | Back to browse issues page

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Hadipour Z, Shafeghati Y, Tonekaboni H, Verheijen F, Rolfs A, Hadipour F. Tay-Sachs Disease; Report of 6 Iranian Patients and Review of Literature . SJRM. 2017; 2 (4) :35-38
URL: http://saremjrm.com/article-1-88-en.html
1- “Genetic Department, Sarem Fertility & Infertility Research Center (SAFIR)” and “Sarem Cell Research Center (SCRC)”, Sarem ‎Women’s Hospital, Tehran, Iran , Dr.hadipour@yahoo.com
2- Department of Genetic Medicine, Sarem Women’s Hospital, Tehran, Iran
3- School of Medicine, Shahid Beheshti University of Medical Sciences, Mofid Hospital, Tehran, Iran
4- Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands
5- Albrecht-Kossel-Institute at the University of Rostock, Centogene, Germany
6- Genetic Department, Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran
Abstract:   (2974 Views)

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.  

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Article Type: Series Report | Subject: Reproduction
Received: 2016/08/17 | Accepted: 2016/12/23 | Published: 2018/02/20

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