Tay- Sachs disease is an autosomal recessive fatal genetic disorder, that progressively destroys nerve cells in the brain and spinal cord.

1. By
Thandie Barretto
Vidyashree. S
McRalph Mendes
THE BIOCHEMISTRY OF TAY - SACHS
DISEASE

2. Overview
 Introduction
 The biochemistry and genetics
 Signs and symptoms
 Diagnosis and treatment
 Summary
 References

3. Introduction
 Tay- Sachs disease is an autosomal recessive fatal genetic
disorder, that progressively destroys nerve cells in the brain and
spinal cord.
 Also known as GM2 gangliosidosis or hexosaminidase A
deficiency.
 It is caused due to the deficiency of beta- hexosaminidase A and
accumulation of GM2 gangliosides in the nerve cells and brain.
 The disease was characterized by two doctors working
independently; Warren Tay, a British opthalmologist and Bernard
Sachs, an American neurologist.
 Most common among Ashkenazi Jews of Eastern Europe,Cajun
community and French Canadians.

4. http://www.curiousyoungwriters.org/

5. The Biochemistry and Genetics
 Beta- hexosaminidase A plays an important role in the central
nervous system and is found in lysosomes.
 Beta-hexosaminidase A breaks down a fatty substance called
GM2 ganglioside.
 The mutations in the HEX-A gene disrupt the activity of the beta-
hexosaminidase A, which in turn prevents the enzyme from
breaking down GM2 ganglioside.
 As a result, this substance accumulates in the neurons in the
brain and spinal cord to toxic levels and this leads to destruction
of neurons.

6. Tay Sachs is an inherited disease that occurs only if both parents are
carriers of the Tay Sachs gene. A child who inherits two Tay Sachs
genes, one from each parent, produces a non functional HEX-A
enzyme and hence develops Tay Sachs disease.
http://the-medical-dictionary.com/fanconi_s_anemia.htm

7. Signs and Symptoms
 Appearance of Cherry Red Spot in the retina.
 When the infant is six months of age, he/she becomes less alert
and less responsive to stimuli.
 The infant gradually regresses, becomes weak and is unable to
crawl or sit
 Seizures and paralysis
 Unresponsive vegetative state followed by death at the age of 4
or 5 years.
 Muscle weakness, loss of muscle coordination, speech problems,
and mental illness are symptoms of juvenile and adult late onset
forms.

8. Diagnoses and Treatment
 A simple blood test can identify Tay Sachs carriers.
 These blood samples can be analyzed by enzyme assay, where
the levels of HEXA are measured
 Genetic testing using polymerase chain reaction
 Eye exams can help.
 Presently there is no cure for Tay Sachs disease.
 Anticonvulsant medicine can control seizures.
 Proper nutrition and hydration and techniques to keep the airway
open.
 Enzyme replacement and bone marrow transplant.
 The affected individual will eventually die from recurring infection.

9. SUMMARY
 Tay sachs disease is an autosomal recessive disorder
 It is caused due to accumulation of GM2 gangliosides.
 The symptoms include reduced alertness, unresponsive to
stimuli, seizures and paralysis.
 The disease can be diagnosed by blood tests, genetic testing
and eye tests.
 There is no real cure for this disease but the patient can be
treated to some extent

10. References
 National human genome research institute. (n.d.). learning about
Tay Sachs. Retrieved august 24, 2015, from genome.gov:
https://www.genome.gov/10001220
 National Tay Sachs and allied diseases. (n.d.). Tay sachs
disease. Retrieved august 24, 2015, from tay_sachs.org:
http://www.tay-sachs.org/taysachs_disease.php
 kids health. (n.d.). tay_sachs.html. Retrieved august 25, 2015,
from kidshealth.org:
http://kidshealth.org/parent/medical/genetic/tay_sachs.html#
 Genetic Home reference. (n.d.). Tay Sachs disease. Retrieved
august 24, 2015, from ghr.gov:
http://ghr.nlm.nih.gov/condition/tay-sachs-disease
 Center, V. (n.d.). Ashkenazi Jews genetic disease. Retrieved
August 25, 2015, from Jewish virtual library:

11. Thank you