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

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New Biomarkers Serum biotinidase: Consistently mild/moderately elevated in GSD Ia & Ib Also variably elevated in some cases of GSD III, VI and IX Mechanism unknown Urine Tetrasaccharides:Paesold-Burda et al 2007 Level of Glc 4 ,is elevated in urine and plasma of GSD IIpatients by HPLC & electrospray ionisation TMSAn et al. 2000 Analyt Biochem 287, 136, Young et al 2003 Good correlation between plasma and urine levels of Glc 4and clinical response to treatmentAn et al. (2005) Molec Genet Metab 85, 247.
Summary Variable presentation of glycogen storage disorders Initial biochemical investigation can providediagnostic clues Enzymatic diagnosis is not always definitiveparticularly in blood Sometimes biopsy and/or genetic testing is requiredto confirm diagnosis
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 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

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

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