Literature DB >> 30567231

Tay-Sachs disease: a novel mutation from India.

Daisy Khera1, Joseph John2, Kuldeep Singh1, Mohammed Faruq3.   

Abstract

Lysosomal storage disorders or lipidoses are a wide spectrum of inherited diseases caused by deficiency of a specific lysosomal hydrolase. About 134 mutations have been described so far and this number is gradually increasing with newer mutations being reported. We report a 28-month-old child who presented to us with neurodevelopment regression, seizures and cherry red spot in both eyes. His hexosaminidase A enzyme activity was reduced and genetic testing revealed a homozygous novel variation in HEXA (hexosaminidase A) gene in the DNA sample of the patient. © BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ.

Entities:  

Keywords:  genetics; metabolic disorders; paediatrics

Mesh：

Substances：

Year:  2018        PMID： 30567231      PMCID： PMC6301636          DOI： 10.1136/bcr-2018-225916

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  10 in total

Review 1.  The cell biology of lysosomal storage disorders.

Authors:  Anthony H Futerman; Gerrit van Meer
Journal:  Nat Rev Mol Cell Biol       Date:  2004-07       Impact factor: 94.444

Review 2.  Variable clinical presentation in lysosomal storage disorders.

Authors:  M Beck
Journal:  J Inherit Metab Dis       Date:  2001       Impact factor: 4.982

3.  Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center.

Authors:  Jayesh Sheth; Mehul Mistri; Riddhi Bhavsar; Frenny Sheth; Mahesh Kamate; Heli Shah; Chaitanya Datar
Journal:  Indian Pediatr       Date:  2015-12       Impact factor: 1.411

Review 4.  Lysosomal storage disorders.

Authors:  Ashok Vellodi
Journal:  Br J Haematol       Date:  2005-02       Impact factor: 6.998

5.  Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

Authors:  Jayesh Sheth; Mehul Mistri; Frenny Sheth; Raju Shah; Ashish Bavdekar; Koumudi Godbole; Nidhish Nanavaty; Chaitanya Datar; Mahesh Kamate; Nrupesh Oza; Chitra Ankleshwaria; Sanjeev Mehta; Marie Jackson
Journal:  JIMD Rep       Date:  2013-07-13

6.  Three novel mutations in Iranian patients with Tay-Sachs disease.

Authors:  Solmaz Jamali; Nasim Eskandari; Omid Aryani; Shadab Salehpour; Talieh Zaman; Behnam Kamalidehghan; Massoud Houshmand
Journal:  Iran Biomed J       Date:  2014

7.  Lysosomal storage disorders.

Authors:  Jayesh Sheth; Pinaki Patel; Frenny Sheth; Raju Shah
Journal:  Indian Pediatr       Date:  2004-03       Impact factor: 1.411

8.  Spectrum of Lysosomal storage disorders at a medical genetics center in northern India.

Authors:  Prashant K Verma; Prajnya Ranganath; Ashwin B Dalal; Shubha R Phadke
Journal:  Indian Pediatr       Date:  2012-03-30       Impact factor: 1.411

Review 9.  GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.

Authors:  Jayesh Sheth; Chaitanya Datar; Mehul Mistri; Riddhi Bhavsar; Frenny Sheth; Krati Shah
Journal:  BMC Pediatr       Date:  2016-07-11       Impact factor: 2.125

10.  Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

Authors:  Jayesh Sheth; Mehul Mistri; Chaitanya Datar; Umesh Kalane; Shekhar Patil; Mahesh Kamate; Harshuti Shah; Sheela Nampoothiri; Sarita Gupta; Frenny Sheth
Journal:  Mol Genet Metab Rep       Date:  2014-09-29
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.