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

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Ischeamicforearm test:interpretationLactate ResponseAmmonia ResponsePoor Muscle Exertion Flat/suboptimal/normal Flat/suboptimalImpairedmuscleglycogenolysisorglycolysisegGSD V, GSDIIIFlat/suboptimalExaggeratedMyoadenylatedeaminase Normal Flat/suboptimalProblems•Lack of exertional effort•Variable protocols•Poor specificity
GSD II: Pompe Disease Deficiency oflysosomal acidα-glucosidase (GAA) AR Rare, 1:40,000 Characterised by the accumulation of glycogen inlysosomes of several cell types, particularlycardiac, skeletal and smooth muscle cells.
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 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 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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