LYSOSOMAL STORAGE DISEASES

B

Y- AKSHAY SINGH

• 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

• 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 ..

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)

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

TYPES OF GAUCHER DISEASE

TYPE 1

Non-neuropathic Gaucher disease CNS are usually not affected.

enlargement of the liver and spleen animia

TYPE 2

• Neuropathic Gaucher disease

• CNS is affected

• Mental retardation abnormal eye movements, seizures

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

NIEMANN PAK DISEASE• group of inherited severe metabolic disorder • Deficient enzyme-Sphingomydinas

• Sphingomyelin accumulate in cells.

Sign and symptomsliver and spleen enlargement

Mental retardation

slurring of speech

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

Krabbe disease• Also called Globoid leukodystrophy . • Deficient enzyme- Galactosylceramidase. • Accumulation of- Galacrocerebroside

Symptoms includes-• Mental retardation• absence of myelin • Irritability, • limb stiffness, • seizures

Batten Disease• 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

Treatment of LSD• ERT (Enzyme Replacement therapy )• Gene therapy• Enzyme stabilisation• Substrate reduction therapy• Combination therapy