Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors

Lysosomal storage disorders: from biology to the clinic with reference to India

“… 26 on adult Gaucher patients. Several other studies such as a single case of Juvenile onset GM2 gangliosidosis, 27 two cases of Late infantile form of multiple sulphatase deficiency (BMC Pediatrics, 2022 under review), and adult onset Sialidosis in a 24 years old male with progressive myoclonic ataxia due to variant in the NEU1 gene (personal communication Sheth et al., 2022) suggest that there are adult forms of LSDs in the country and they might be underdiagnosed due to poor awareness.…”