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Tay-Sachs disease: a novel mutation from India
Daisy Khera1, Joseph John2, Kuldeep Singh1
1Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Jodhpur, Rajasthan, India.
BMJ Case Reports
|December 21, 2018
Summary
This study reports a novel genetic mutation in the HEXA gene causing a rare lysosomal storage disorder. Early diagnosis through enzyme activity and genetic testing is crucial for managing this inherited neurodegenerative condition.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Lysosomal storage disorders (LSDs), or lipidoses, are inherited conditions resulting from deficient lysosomal hydrolase enzymes.
- Over 134 mutations causing LSDs have been identified, with ongoing discoveries of new mutations.
Observation:
- A 28-month-old child exhibited neurodevelopmental regression, seizures, and a characteristic cherry-red spot in both eyes.
- Reduced hexosaminidase A enzyme activity was detected in the patient.
Findings:
- Genetic analysis revealed a homozygous novel variation in the HEXA (hexosaminidase A) gene.
- This mutation is associated with the observed clinical presentation and biochemical deficiencies.
Implications:
- Highlights the importance of early diagnosis for LSDs through enzyme assays and genetic testing.
- Contributes to the growing understanding of HEXA gene mutations and their role in neurodegenerative disorders.
- Emphasizes the need for continued research into novel mutations and therapeutic strategies for lipidoses.
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