More Related Content
What's hot (20)
Similar to Mucopolysaccharidosis (20)
![DM lecture for c1 [Autosaved].ppt](https://cdn.slidesharecdn.com/ss_thumbnails/dmlectureforc1autosaved-220720190831-86418752-thumbnail.jpg?width=560&fit=bounds)
Recently uploaded (20)
Mucopolysaccharidosis
- 2. Outline Lysosomal storage diseases Introduction to LSDs Classification of LSDs Mucopolysaccharidosis Introduction Classification Management of MPS
- 3. LYSOSOMES Cell organelles that is present in the cell Lysosomes contains hydrolytic enzymes which helps in breakdown and use of fats and cholesterol in the body This are also known as the suicidal bags. Lysosome disease is a condition that affects many parts of the body This disorder lipase deficiency is an inherited This accumulation of lipids leads to several health problems, including an enlarged liver and spleen
- 4. Lysosomal storage diseases Lysosomal storage disease is a group of disorders that affect specific enzymes. Lysosomal storage accumulation usually caused by the lysosomal disfunction usually deficiency of single enzyme required for metabolism of lipid eg: Mucopolysacchrides , glycoprotein etc. Lysosomal storage disease are more than 50 it may classify The precise mechanisms underlying this degeneration are incompletely defined. The pattern of neuronal degeneration in subtypes of lysosomal storage diseases
- 5. Classification Mucopolysaccharidosis (variable nervous system involvement) Mucolipidoses (originally considered an MPS) Glyco proteinoses Glycogen storage Sphingolipidoses Lipid storage disorders Multiple enzyme defects Transport defects Batten Disease
- 6. Mucopolysaccharidosis Long unbranched polysaccharides consisting of a repeating disaccharide unit. Mucopolysaccharidosis are a Hereditary disorder. This diseases caused by mutations of genes coding for lysosomal enzymes. This is needed to degrade glycosaminoglycans (GAGs) (acid mucopolysaccharides). Long-chain complex carbohydrate. The major GAGs are: 1. Chondroitin -4- sulfate 2. Heparan sulfate 3. Dermatan sulfate 4. Keratan sulfate 5. Hyaluronan Glycosaminoglycans (GAGs) Major constituents of the ground substance of connective tissue, as well as nuclear and cell membranes
- 8. Molecular Basis Of Mpsi (Hurler) Mucopolysaccharidosis typeI(MPSI) also called Hurler syndrome. The IDUA gene are mutation. an inherited metabolic disorder cause by a enzyme alpha--L--iduronidase. This enzyme main property in breakdown long chains of sugar molecules called Glycosaminoglycans(GAGs). As a result ,these molecules accumulate in the body, causing numerous health Problems. If untreated, children with mps1 usually die before the age of 10.
- 10. INCIDENCE Approximately 1 in 100,000 to 1 in 200,000 individuals are affected with MPS1 worldwide. MPS1 affects individuals may increased risk for specific populations. INHERITANCE PATTERN MPS1 is inherited in an autosomal recessive manner. The mother and father are both found to be MPS1 carriers.
- 11. Hunter disease (MPS II) GAG builds up in cells throughout the body due to a deficiency or absence of the enzyme iduronate-2- sulfatase (IDS). the breakdown of dermatan sulfate and heparan sulfate requires the lysosomal enzyme IDS. The IDS gene are mutation. The gene encoding IDS is mapped to Xq28. Point mutations of the IDS gene have been detected in about 80% of patients with MPS II. Is an X-linked disorder caused by the deficiency of iduronate-2-sulfatase (IDS)
- 13. INCIDENCE incidence among males of approximately 1 in 130,000 male live births. MPS affects individuals may increased risk for specific in male populations. INHERITANCE PATTERN MPS is inherited in an X-linked recessive inheritance manner. The mother less in carrier and father are more in found to be IDS carriers.
- 14. Symptoms By one year of age signs and symptoms of the disorder become apparent. Affected systems include skeletal, neurologic, cardiovascular, hearing, digestive, vision and respiratory. Symptoms can be severe including joint deformities, deafness, blindness and significant developmental regression.
- 15. Management of MPS Hematopoietic stem cell transplantation results in significant clinical improvement of somatic disease in MPS I and II. Enzyme replacement using recombinant enzymes is approved for patients with MPS I and MPS II. There is no cure for MPS. The goal of management is to decrease the severity of symptoms and increase lifespan through bone marrow transplant, hematopoietic stem cell transplant (HSCT) before age 2, and enzyme replacement therapy.
- 16. Summary Lysosomes contains hydrolytic enzymes which helps in the digestion of cell. Lysosomal storage disease is a group of disorders that affect specific enzymes. Mucopolysaccharidoses are a Hereditary disorder.