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Sphingolipidoses
This document discusses sphingolipidoses, a class of rare genetic disorders caused by the accumulation of metabolites from complex lipids within neurons. Sphingolipidoses are characterized by progressive nervous system degeneration leading to symptoms like blindness, dementia, and paralysis. A cherry-red spot in the macula is a common sign seen during ophthalmologic examination, which can provide an important clue to diagnosis. Gangliosidoses are a type of sphingolipidosis caused by deficiencies in lysosomal enzymes involved in ganglioside metabolism, resulting in the storage of certain gangliosides in neurons and neurological deterioration. These disorders are ultimately fatal as there are currently no effective treatments available.
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Sphingolipidoses
- 1. Sphingolipidoses Dr.S.Sethupathy, M.D.,Ph.D., Department ofBiochemistry, Rajah Muthiah Medical College, Annamalai University
- 2. Sphingolipids The sphingolipids acomplex range of lipids in which fatty acids are linked via amide bonds to a long-chain base or sphingoid. They are also found in a few bacterial genera - Sphingomonas and Sphingobacterium.
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- 7. Lysosomal storage diseases Thelysosomal storage diseases are a rare class of neurometabolic disorders. Metabolites of complex lipids accumulate within neurons. Mostly autosomal recessive fashion For genetic counseling and for monitoring future pregnancies.
- 8. Sphingolipidoses They are characterizedby a progressive degenerative disease of the nervous system, with blindness, dementia, epilepsy, ataxia, paralysis, and hyperreflexia. A cherry-red spot at the macula and optic atrophy are the most common signs Ophthalmologic examination - an important clue to the diagnosis.
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- 13. Gangliosides Gangliosides areimportant constituents of gray matter. They are glycosphingolipids that contain sialic acid in the oligosaccharide chain. The metabolism of ganglioside involves the removal of the terminal galactose to convert GM1-ganglioside to GM2-ganglioside. GM2-ganglioside is then hydrolyzed to GM3- ganglioside by the removal of N- acetylgalactosamine.
- 14. D.Blue –GLU, L.Blue-sialic acid, W-NAcGal, Y- Gal
- 15. Gangliosidoses They are neuronallipid storage disorders due to deficiencies of certain lysosomal hydrolases. Autosomal recessive inheritance Progressive mental and motor deterioration Due to the storage of GM1- or GM2- ganglioside in neurons.
- 20. Prognosis Lysosomal storagediseases are ultimately fatal There is no effective treatment. Almost all the disorders diagnosed by enzyme analysis. Leukocytes and cultured skin fibroblasts or serum can be assayed for enzyme activity Prenatal diagnosis is also possible.
- 21. Disease Enzyme DiagnosticSample(s) GM2-gangliosidosis Tay-Sachs disease Hex A deficient Leukocyte serum Sandhoff's disease Hex A and B deficient Leukocyte serum AB variant Hex A, B normal GM2loading studies in fibroblasts B1variant Hex A deficient with sulfated substrate Leukocyte fibroblasts Juvenile GM2- gangliosidosis Partial Hex A deficiency Leukocyte serum Infantile GM1- gangliosidosis ß-Galactosidase deficient Leukocyte fibroblasts Niemann-Pick disease Type A, infantile Sphingomyelinase deficient Leukocyte fibroblasts Type B Sphingomyelinase deficient Leukocyte fibroblasts Farber's lipogranulomatosis Ceramidase Leukocyte fibroblasts Sialidoses Type 1 Sialidase deficient Fresh fibroblasts Type 2 Sialidase and ß-galactosidase deficient Fresh fibroblasts