Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.

ABSTRACT:

Background

Tay-Sachs disease (TSD) is a lysosomal storage disease caused by mutations in the HEXA gene that encodes the HexosaminidaseA (HEXA) enzyme. As HEXA normally functions to degrade the protein GM2-ganglioside in lysosomes, decreased levels of HEXAcauses an accumulation of the protein and leads to neurological toxicity. Typical clinical manifestations of TSD include neurodevelopmental regression, muscle weakness, hypotonia, hyperreflexia, ataxia, seizures, and other neurological symptoms. It is quite rare in Asian populations, wherein only two cases have been reported in Korea to date.

Methods

Clinical records, radiological assessments, and laboratory findings, such as plasma hexosaminidase assay and HEXA analysis, were extracted from the medical records of three (1 m

SUBMITTER: Park JH 

PROVIDER: S-EPMC8222837 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature