Tay-Sachs disease: a novel mutation from India.

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.

SUBMITTER: Khera D 

PROVIDER: S-EPMC6301636 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature