Biochem- Lysosomal Disorders
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Created by:
docHolmes Plus on March 12, 2012
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21 terms
Terms | Definitions |
|---|---|
 Lysosomes what do they degrade | degradation of complex lipids(spinogmyelin) , glycosaminoglycans, and glycogen. |
| Hurler syndrome- phenotype | Coarse facial features, short stature, developmental delay, hepatosplenomegaly, restricted joint mobility, Corneal Clouding |
| Hurler syndrome-Cellular details | Iduronidase removes desulphinated iduronidate sugar Substrates accumulating: Dermatansulfate and heparansulfate Urine is positive for glycosaminoglycans |
| Hurler syndrome-Tests and Treatments | Fibroblast assay & Enzyme replacement therapy with iduronidase |
| Hunter syndrome- cellular details | Enzyme deficient: Iduronate sulfatase |
| Hunter syndrome- phenotype | Milder- X linked recessive ( more men then women) Coarse facial features, hepatosplenomegaly, mild to moderate mental retardation, but NO corneal clouding |
| Glycosphingolipids Define & examples | containing a carbohydrate moiety linked to ceramide (eg: ganglioside, globoside, glucocerebroside |
| Sphingophospholipids Define & Examples | contain a phosphoryl choline moiety linked to ceramide (eg: sphingomyelin) |
| Tay-Sachs disease- cellular details | Deficient enzyme: β-Hexosaminidase A •Accumulating substrate: Ganglioside(GM2). AKA gangliosidosis |
| Tay-Sachs disease- physical phenotype | Most Severe : neurodegeneration after the age of 3-6 months, blindness •Developmental milestone delay (child not able to sit or stand in the later stages) •Generally fatal by 2-6 years |
| Tay-Sachs disease- Histology phenotype | Cherry Red spot on the macula Onion shell inclusions in the lysosomes |
| Gaucher disease- cellular details | Most Common lysosomal storage disorder Deficient enzyme: β-Glucosidase Accumulating substrate: Glucosylceramide (aka glucocerebroside) |
| Gaucher disease-physical/ histological phenotype | Adult form (most common) shows no neurological damage but marked hepatosplenomegalyand osteoporosis of long bones The increase in glucucerebroside gives a tissue paper appearance to the cytoplasm |
| Fabry disease- cellular details | Deficient enzyme: -Galactosidase •Accumulating substrate: Globoside(aka ceramidetrihexoside) |
| Fabry disease- phenotype | X-linked recessive disorder (Males commonly affected) Peripheral neuropathy (tingling of extremities) and baiting suit distribution Rash |
| Niemann-Pick disease- cellular | Deficient enzyme: Sphingomyelinase •Accumulating substrate: Sphingomyelin(sphingophospholipid) |
| Niemann-Pick disease-Phenotype two types | •Type A is a severe infantile form -fatal by 2-3 years, accumulation in neurons •Type B appears later in childhood, presents with hepatosplenomegaly •'Cherry-red spot' in macula on retinal examination |
| Pompe disease | Enzyme deficiency lysosomalacid maltase (1→4 glucosidase build up in the heart, liver and skeletal muscle |
| i Cell disease | In the trans Golgi there is a receptor for a 6-P-mannose, thus once the Right mannose has been Phos- It is transferred to the lysosomes Without the Phos. it is transfered to the blood |
| i Cell disease -cellular | accumulation of glycosaminoglycans and sphingolipidsin the lysosomes presence of intracytoplasmic inclusions in the fibroblasts |
| i Cell disease -Phenotype | similar to Hurler syndrome, but more severe and an earlier age of onset |
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