Tay-Sachs disease is a rare genetic disorder caused by mutations in the HEXA gene resulting in reduced or absent levels of the enzyme beta-hexosaminidase A. This enzyme normally helps break down a fatty substance called GM2 ganglioside in neurons. Without enough enzyme activity, GM2 ganglioside accumulates toxically in the brain. There are three main types classified by age of neurological symptom onset - infantile, juvenile, and adult-onset. Currently there is no cure, so treatment aims to manage symptoms and provide comfort through physical therapy, feeding tubes, medication, etc. Potential future treatments include gene therapy and enzyme replacement research.

1. TAY-SACHS DISEASE
Sir. Stymass Kasty
SOKOINE UNIVERSITY OF AGRICULTURE
MOROGORO-TANZANIA

2. INTRODUCTION
 Rare disorder passed from
parents to child
 Absence of an enzyme that
helps break down fatty
substances called
gangliosides
 Build up to toxic levels in the
child's brain and affect the
function of the nerve cells.

3. MECHANISM
 Tay-Sachs is an Autosomal
Recessive disease caused by
mutations in both alleles of a
gene (HEXA) on
chromosome 15 (15q24.1)
 HEXA codes for the alpha
subunit of the enzyme β-
hexosaminidase A.

4. MECHANISM
 Normally, β-hexosaminidase
A helps to degrade a lipid
called GM2 ganglioside
 In Tay-Sachs individuals,
the enzyme is absent or
present only in very reduced
amounts, allowing excessive
accumulation of the GM2
ganglioside in neurons.

5. TYPES OF TAY-SACHS
 Tay-Sachs disease is classified based on the
time of onset of neurological symptoms
Infantile TSD - Between 3 and 10 Month
(Death before the age of 4 or 5 Years)
Juvenile TSD (Between 2 and 10 Years) -
Extremely rare (Die between 5-15 Years)
Adult/Late Onset TSD (Between 20 and 30
Years)-Usually Non Fatal

6. PATHOPHYSIOLOGY

7. DIAGNOSIS
 Simple Blood Test: To measure the body's
level of hexosaminidase A (patients with
Tay-Sachs lack most or all of this protein
whereas levels are reduced in other forms of
Hexosaminidase A deficiency).
 Genetic Testing (DNA): PND and PGD
 Eye Examination: Classic cherry-red spot in
the center of the eye's macula (Retina part)

8. TREATMENT
TREATMENT GOAL
The goal of the Treatment
is Support and Comfort
MANAGEMENT WAYS:
 Physical Therapy
 Chest Physiotherapy
 Feeding Tubes, Wheel
chairs, Canes and
Walkers
 Medication (Anti-seizure)
PREVENTION
 NO Cure for the Tay-
Sach Disease
 Methods of Prevention:
 Antenatal diagnosis (AND)
- Amniocentesis and
Chorionic Villus Sampling
 Pre-implantation genetic
diagnosis (PGD)
 Mate selection

9. CONCLUSION
Potential Future Treatments:
Gene Therapy and Enzyme
Replacement Research may
eventually lead to a cure or
treatment to slow progression of
Tay-Sachs disease