GSD 14.10.10.ppt [Compatibility Mode] - MetBio.Net

More documents

Recommendations

Info

Phosphorylase b Kinase ActivityWashed Prepared RBCsIncubation of the sample with phophorylaseb to generatephosphorylaseaSamples collected at 0, 7 and 14 minsIncubation with glucose-1-phosphate and glycogen to generate freephosphatePrecipitate proteinsQuantify phosphate using an acid molybdatereaction•Assay available in liver, fibroblasts and muscle
Problems with Enzymatic Diagnosis ofPhosphorylase b Kinase Deficiency Even in confirmed cases total enzyme deficiency may not be seen invitro. Some cases have phosphorylase b kinase deficiency in liver but normalactivity in red cells Muscle forms will not be detected in RBCs Mutations have been found that cause a deficiency in vivo but not in vitro Phosphorylase in leucocytes:Ratio of the active form to total – low in cases of phosphorylase bkinase deficiency. In some cases of phosphorylase b kinasedeficiency the red cell glycogen may be raised BUT not always.
Page 4 and 5: Glycogen Storage DiseasesPredominat
Page 6 and 7: Initial Laboratory Tests for the In
Page 8: RBC glycogen Relatively non invasiv
Page 14 and 15: Results which may suggest a defect
Page 16 and 17: Glycogen Brancher ActivityWhite cel
Page 18 and 19: Glucose-6-phosphatase AssayFresh Li
Page 20 and 21: Glycogen Storage Disordersaffecting
Page 22 and 23: GSD V: Diagnosis CK Ischaemic forea
Page 24 and 25: Ischeamicforearm test:interpretatio
Page 26 and 27: PompeDisease 2 main forms: Infantil
Page 28 and 29: Pompe disease Diagnosis Muscle Elec
Page 30 and 31: Confirmatory Diagnosis of GlycogenS
Page 32 and 33: New Biomarkers Serum biotinidase: C

GSD 14.10.10.ppt [Compatibility Mode] - MetBio.Net

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?