TY - JOUR T1 - Tay-Sachs disease: a novel mutation from India JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2018-225916 VL - 11 IS - 1 SP - e225916 AU - Daisy Khera AU - Joseph John AU - Kuldeep Singh AU - Mohammed Faruq Y1 - 2018/11/01 UR - http://casereports.bmj.com/content/11/1/e225916.abstract N2 - 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. ER -