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

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Initial Laboratory Tests for the Investigation ofSuspected <strong>GSD</strong> Blood glucose If hypoglycaemia includeinsulin, FFA, ketones Blood lactate Urate LFTs Lipids CK U&E, tubular proteins,protein/albumin Muscular symptoms only: CK Vacuolated lymphocytes Renal function <strong>GSD</strong> Screen
Glycogen storage disease screen: Minimum 5ml blood in lithium heparin Red cells –glycogen and phosphorylase b kinase White cells –debrancher and phosphorylase-(brancher) Batch consists of 8 samples (manageable no. of assay tubes) Screen takes operator one a week to complete
Page 4 and 5: Glycogen Storage DiseasesPredominat
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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