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

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Glucose-6-phosphatase AssayFresh LiverIn sucrose homogenateto preserve microsomesHydrolase & transport proteinsHistone preparation to disruptthe microsomesHydrolase onlyIncubation with G-6-P in acetate buffer pH 5.0 (inhibits non-specific hydrolase)Precipitation of protein and estimation of phosphate –spectrophotometric method•Requires in-patient at GOSH•Problem with controls
Glycogen levels in GSDsGSDRBCGlycogenTissue glycogenHistologyGSD 1 Normal Raised liver glycogen PAS pos cyoplasmic glycogen,significant lipid accumulationGSD II Normal Raised muscleglycogenGSD IIISignificantlyraisedSignificantly raisedliver glycogenGSD IV Normal Muscle glycogen concmay be normalGSD V Normal Muscle glycogen maybe normalPAS pos lysosomal glycogenPAS pos cyoplasmic glycogen,some lipid accumulationPAS positive amylopectin likecytoplasmic glycogenPAS pos cyoplasmic glycogenGSD VI Normal Raised liver glycogen PAS pos cyoplasmic glycogen,GSD VII Normal Muscle glycogen maybe normalGSD IXOften mild/modraisedUsually raised liverglycogenPAS pos cyoplasmic glycogen,PAS pos cyoplasmic glycogen,
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 12 and 13: Phosphorylase b Kinase ActivityWash
Page 14 and 15: Results which may suggest a defect
Page 16 and 17: Glycogen Brancher ActivityWhite cel
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

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