Open AccessTay-Sachs Disease: A Rare Storage Disorder in Children
Author(s) -
Sunil Kumar Agarwalla,
Laxmipriya Tudu,
Arpita Jalan
Publication year - 2021
Publication title -
international journal of health sciences and research
Language(s) - English
Resource type - Journals
ISSN - 2249-9571
DOI - 10.52403/ijhsr.20210728
Subject(s) - tay sachs disease , medicine , gangliosidosis , hexosaminidase , enzyme replacement therapy , lysosomal storage disease , lysosomal storage disorders , disease , enzyme deficiency , enzyme , pediatrics , pathology , biochemistry , biology
Tay-Sachs disease is an autosomal recessive lysosomal storage disorder cause by deficiency of enzyme Beta Hexosaminidase A and leading to accumulation of GM2 gangliosides mainly in CNS, results in progressive loss of neurological functions.We report a case of 14 month old male child presented to us with neuro-developmental regression, convulsions and bilateral cherry red spot on funduscopy. The diagnosis of Tay-Sachs disease was made by marked decrease level of enzyme Hexosaminidase A.Key words: Lysosomal storage disorder, GM2 gangliosides, neuro- regression, cherry red spot, Enzyme replacement therapy.