2. • What is LYSOSOMES ?
Cell organelles that is present in the cell of
eukaroytes
Lysosomes contains hydrolytic enzymes which helps
in the digestion of cell .
It is also known as the suicidal bags
3. • What is Lysosomal storage diseases?
• Lysosomal storage disease is a group of disorders that
affect specific enzymes .
• Lysosomal disorder usually caused by the lysosomal
disfunction usually deficiency of single enzyme
required for metabolism of lipid . Mucopolysacchrides
, glycoprotein etc.
• Lysosomal storage disease are more than 50 we can
classify it in the following ways ..
4. Classification
• Mucopolysaccharidoses (variable nervous system
involvement)
• Mucolipidoses (originally considered an MPS)
• Glyco proteinoses
• Glycogen storage
• Sphingolipidoses
• Lipid storage disorders
• Multiple enzyme defects
• Transport defects
• Batten Disease
• (Red = nervous system involvement)
5. GAUCHER DISEASE
• An inherited disorder that affects many of the
body's organs and tissues.
• Deficiency of Glucocerebrosidase
• Accumulation of glucocerebroside in macrophages of
reticulem endothelial cells.
• Sign and symptoms –
• liver and spleen enlargement,
• erosion of long bones and pelvis,
• mental retardation in infantile form only
6. TYPES OF GAUCHER DISEASE
Non-neuropathic Gaucher
disease
enlargement of the liver and
spleen
animia
TYPE 1 TYPE 2
• Neuropathic Gaucher
disease
CNS are usually not affected.
• CNS is affected
• Mental retardation
abnormal eye
movements, seizures
7. Tay-Sachs disease
• Tay-Sachs disease is a genetic disorder that is
fatal in most occurrences
• Dificiant enzyme-Hexosamindase A
• Accumulatation of Glucocerebroside
•Sign and symptomes
• Mental retardation,
• blindness,
• cherry red spot on macula,
• death between second and third year
8. NIEMANN PAK DISEASE
• group of inherited severe metabolic disorder
• Deficient enzyme-Sphingomydinas
• Sphingomyelin accumulate in cells.
Sign and symptoms
liver and spleen enlargement
Mental retardation slurring of
speech
9. TYPES OF NIEMANN-PICK DISEASES
TYPE A TYPE B TYPE C
Most severe form,
occurs in early
infancy.
characterized by an
enlarged liver and
spleen, swollen
lymph nodes, and
profound brain
damage
by six months of
age.
Involves an
enlarged liver and
spleen,
occurs in the pre-
teen years.
The brain is not
affected
May appear early in life
or develop in the teen
or adult years.
individuals have only
moderate enlargement
of the spleen and liver,
brain damage
11. BattenDisease
• Also called Spielmeyer-Vogt-Sjögren-Batten disease
• most common form of a group of disorders called the
neuronal ceroid lipofuscinoses (NCLs)
• Deficient enzyme-PPT1(palmitoyl-protein thioesterase 1)
•Sign and symptomes
• This disease mostley seen in Children
• Seizures
• Visual impairment/blindness
• Personality and behavior changes
• Dementia
• Loss of motor skills
