Abstract
Introduction: 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.Objective: To perform a review of the state of the art on TSD describing its definition, epidemiology, etiology, physiopathology, clinical manifestations and news in diagnosis and treatment.Materials and methods: A literature search was carried out in PubMed using the MeSH terms “Tay-Sachs Disease”.Results: 1 233 results were retrieved in total, of which 53 articles were 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.Conclusion: 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 in order to find an adequate treatment.
Highlights
Lysosomal storage disease is caused by the deficiency of a single hydrolase
There are two isoenzymes of β-hexosaminidase: hexosaminidase A (HexA), a heterodimer formed by two subunits (α and β), and hexosaminidase B (HexB), a homodimer formed by two subunits (β- and β). [1,3] There are three forms of GM2 gangliosidosis: Tay-Sachs disease (TSD), Sandhoff disease (SD) and GM2 activator deficiency
TSD was first described in 1881, but its etiology remained unknown for a long time, and affected newborns could only be diagnosed after the first clinical manifestations. [1,5] That changed in 1969 when the deficiency of the hexosaminidase enzymatic activity was discovered, allowing the initiation of the assessment of carrier states. [5,6] Largescale detection in specific ethnic groups decreased its incidence by 90% in the USA, mainly in groups where the rate of the disease was higher, as in people of Ashkenazi Jewish descent
Summary
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. [10] In addition, marriages between different ethnic groups result in more complex genetic diversity, so a traditional DNA analysis has low sensitivity [5]; sequencing promises greater sensitivity and specificity, with the potential to become a leading tool in carrier state screening and increasing its effectiveness to further decrease the incidence of TSD. Having an updated literature review on TSD is of great importance, since there is little relevant information available to the medical community due to its rare nature With this in mind, the objective of this research is to provide information so that it can be a useful tool to know and understand this pathology for proper diagnose and treatment. The reader will find information on the epidemiology, etiology, physiopathology, clinical, diagnosis and management of this disease
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