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

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Glycogen Storage DiseasesPredominately Hepatic GSDs:GSD I – glucose-6-phosphatase or transport systems in ERGSD III – debranching enzymeGSD IV – branching enzymeGSD VI – liver phosphorylaseGSD IX – liver phosphorylase b kinaseGSD 0 – glycogen synthasePredominately Muscle GSDs:GSD II – acid a-glucosidaseGSD V – muscle phosphorylaseGSD VII -muscle phosphofructokinase
GSDHepatomegalyGSD 0 No NoneGSD I Yes NoneGSD IINoMuscle symptomsTruncal & proximal muscle weakness.More severe infantile form.GSD III Yes Myopathy can occurGSD IVHepaticGSD VYesNoGSD VI Yes NoneGSD VIIGSD IX liverformNoYesGSD XI Yes NoneMyopathy can occurExertional muscle weakness with riskof rhabdomyolysisExertional muscle weakness with riskof rhabdomyolysisMyopathy can occurGlucosehomeostasisFasting ketotichypoglycaemiaSevere (ketotic)hypoglycaemiaNo overt effectFasting ketotichypoglycaemiaNormal until endstage liver diseaseNo effectFasting ketotichypoglycaemiaNo effectOther BiochemistryRaised lipids, urate, lactate,AST/ALT, Abnormal renalbiochemistry includingproteinuriaRaised CK,vacuolatedlymphocytesRaised lipids, AST/ALT, CK maybe raisedRaised AST/ALT, CK can beraisedRaised CKRaised AST/ALTRaised CKFasting ketotichypoglycaemia can CK can be raisedoccurKetotichypoglycaemiaRaise AST/ALT, Abnormal renalbiochemistry including tubularmarkers.
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 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

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