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Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 12/2018

01-12-2018 | Scientific Letter

Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene

Authors: Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Maya Bhat, Asha Benakappa

Published in: Indian Journal of Pediatrics | Issue 12/2018

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Excerpt

To the Editor: Tay-Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder due to deficiency of beta hexosaminidase A enzyme. It is caused by mutations in HEXA gene [1]. The prevalence of TSD in general population is 1 in 3,20,000 [2]. We report a child with TSD presenting as autistic regression and refractory epilepsy due to novel mutation. …
Literature
1.
Tanaka A, Fujimaru M, Choeh K, Isshiki G. Novel mutations, including the second most common in Japan, in the B-hexosaminidase a subunit gene, a simple screening of Japanese patients with Tay-Sachs disease. J Hum Genet. 1999;44:91–5.CrossRef
2.
Stenson PD, Ball EV, Howells K, Phillips AD, Mort M, Cooper DN. The human gene mutation database: providing a comprehensive central mutation data base for molecular diagnostics and personalized genomics. Hum Genomics. 2009;4:69–72.CrossRef
Metadata
Title
Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene
Authors
Vykuntaraju K. Gowda
Varunvenkat M. Srinivasan
Maya Bhat
Asha Benakappa
Publication date
01-12-2018
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 12/2018
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-018-2741-x

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