scholarly journals Tay-Sachs Disease: A Rare Storage Disorder in Children

2021 ◽  
Vol 11 (7) ◽  
pp. 194-196
Author(s):  
Sunil Kumar Agarwalla ◽  
Laxmipriya Tudu ◽  
Arpita Jalan
Keyword(s):  
Lysosomal Storage Disorder ◽  
Autosomal Recessive ◽  
Marked Decrease ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Developmental Regression ◽  
Tay Sachs Disease ◽  
Hexosaminidase A ◽  
Cherry Red Spot ◽  
Storage Disorder

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.

scholarly journals Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder—murine Pompe disease

Autophagy ◽  
2010 ◽  
Vol 6 (8) ◽  
pp. 1078-1089 ◽  
Author(s):  
Nina Raben ◽  
Cynthia Schreiner ◽  
Rebecca Baum ◽  
Shoichi Takikita ◽  
Sengen Xu ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Lysosomal Storage Disorder ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Storage Disorder

LATE-ONSET LYSOSOMAL STORAGE DISORDER WITH MACULAR CHERRY-RED SPOT

2019 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Leyla Gahramanova ◽  
Tural Galbinur ◽  
Ayan Mammadkhanova
Keyword(s):  
Lysosomal Storage Disorder ◽  
Late Onset ◽  
Lysosomal Storage ◽  
Cherry Red Spot ◽  
Storage Disorder

scholarly journals Tay-Sachs disease

2019 ◽  
Vol 67 (3) ◽  
pp. 323-329
Author(s):  
Carlos Andrés Gualdrón-Frías ◽  
Laura Tatiana Calderón-Nossa
Keyword(s):  
Autosomal Recessive ◽  
Neurodegenerative Disorder ◽  
Clinical Manifestations ◽  
Lysosomal Storage ◽  
Adequate Treatment ◽  
Autosomal Recessive Disorders ◽  
Tay Sachs Disease ◽  
Mesh Terms ◽  
Hexosaminidase A ◽  
Gm2 Gangliosidoses

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.

Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorder

2016 ◽  
Vol 176 ◽  
pp. 29-37.e1 ◽  
Author(s):  
Ana Paula Schneider ◽  
Ursula Matte ◽  
Gabriela Pasqualim ◽  
Angela Maria Vicente Tavares ◽  
Fabiana Quoos Mayer ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Lysosomal Storage Disorder ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Storage Disorder

scholarly journals Tay-Sachs disease: a novel mutation from India

2018 ◽  
Vol 11 (1) ◽  
pp. e225916 ◽  
Author(s):  
Daisy Khera ◽  
Joseph John ◽  
Kuldeep Singh ◽  
Mohammed Faruq
Keyword(s):  
Enzyme Activity ◽  
Novel Mutation ◽  
Wide Spectrum ◽  
Lysosomal Storage ◽  
Lysosomal Hydrolase ◽  
Tay Sachs Disease ◽  
Hexosaminidase A ◽  
Cherry Red Spot ◽  
Novel Variation ◽  
Storage Disorders

Lysosomal storage disorders or lipidoses are a wide spectrum of inherited diseases caused by deficiency of a specific lysosomal hydrolase. About 134 mutations have been described so far and this number is gradually increasing with newer mutations being reported. We report a 28-month-old child who presented to us with neurodevelopment regression, seizures and cherry red spot in both eyes. His hexosaminidase A enzyme activity was reduced and genetic testing revealed a homozygous novel variation in HEXA (hexosaminidase A) gene in the DNA sample of the patient.

scholarly journals Unusual case of Juvenile Tay-Sachs disease

2019 ◽  
Vol 12 (9) ◽  
pp. e230140
Author(s):  
Huma A Cheema ◽  
Nadia Waheed ◽  
Anjum Saeed
Keyword(s):  
Autosomal Recessive ◽  
Unusual Case ◽  
Neurodegenerative Disorder ◽  
Sphingolipid Metabolism ◽  
Tay Sachs Disease ◽  
First Case ◽  
Hexosaminidase A ◽  
Cherry Red Spot ◽  
Autosomal Recessive Manner

Tay-Sachs disease (TSD) is a type 1 gangliosidosis (GM2) and caused by hexosaminidase A deficiency resulting in abnormal sphingolipid metabolism and deposition of precursors in different organs. It is a progressive neurodegenerative disorder transmitted in an autosomal-recessive manner. There is an accumulation of GM2 in neurocytes and retinal ganglions which result in progressive loss of neurological function and formation of the cherry-red spot which is the hallmark of TSD. We report the first case of juvenile TSD from Pakistan in a child with death of an older sibling without the diagnosis.

Sign in / Sign up

Export Citation Format

Share Document