Lysosomal Storage Diseases.pptx

lysosomal storage diseases

1. LYSOSOMAL STORAGE DISEASES

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. G A UC H E R DI S E A S E 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. TY P E S O F G A UC H E R DI S E A S E 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, seizure s

7. T a y -Sach s d i s ea s e 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. N IEM AN N P A K DIS E A S E 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

10. K r a bb e d i seas e Also called Globoid leukodystrophy . Deficient enzyme- Galactosylceramidase. Accumulation of- Galacrocerebroside Symptoms includes- Mental retardation absence of myelin Irritability, limb stiffness, seizures

11. B at t e n D i se a s e 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

12. T r ea tm en t o f L S D ERT (Enzyme Replacement therapy ) Gene therapy Enzyme stabilisation Substrate reduction therapy Combination therapy

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