Tay-Sachs disease

Abstract: Lysosomal storage disease is caused by the deficiency of a single hydrolase (lysosomal enzymes). GM2 gangliosidoses are autosomal recessive disorders caused by deficiency of β-hexosaminidase and Tay-Sachs disease (TSD) is one of its three forms.

Methods: To perform a review of the state of the art on TSD and describe its definition, epidemiology, etiology, physiopathology, clinical manifestations, as well as advances regarding its diagnosis and treatment.

A literature search was carried out in PubMed using the MeSH term “Tay-Sachs Disease”.

Results: after the initial search was conducted, 1 233 results were retrieved, of which 53 articles were finally selected. TSD is caused by the deficiency of the lysosomal enzyme β-hexosaminidase A (HexA) and is characterized by neurodevelopmental regression, hypotonia, hyperacusis, and cherry-red spots in the macula. Research on molecular pathogenesis and the development of possible treatments has been limited, consequently, there is no treatment established to date.

Conclusions: TSD is an autosomal recessive neurodegenerative disorder. Death usually occurs before the age of five. More research and studies on this type of gangliosidosis are needed to find adequate treatment.

Trial registration: The study was registered at https://www.chictr.org.cn (ChiCTR1800019663).

Keywords: Tay-Sachs Disease; Gangliosidoses; Hexosaminidase A; Enzymes; Jews (MeSH).