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

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.

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.

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.

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

PATHOPHYSIOLOGY

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)

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

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