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.
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Khera, D., John, J., Singh, K., & Faruq, M. (2018). Tay-Sachs disease: A novel mutation from India. BMJ Case Reports, 11(1). https://doi.org/10.1136/bcr-2018-225916
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