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

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Confirmatory Diagnosis of GlycogenStorage Disease Type IIDemonstration of a deficiency of lysosomal a-glucosidase• Direct: Muscle, fibroblasts• With acarbose: To inhibit interference from Maltaseglucoamylase(MGA)• Leucocytes• Dried blood spotsLess invasive –heel prick, finger stick or blood drawSmall sample requirementConvenientLittle specimen preparationCan be sent in post (cheaper)Stabile at RT during shipping and frozen for long term storageCan be used for newborn screeningLess infectious
Other Myopathic GSDs GSD VII Deficiency of phosphofructokinase Severe infantile form: Respiratory failure Mild adult form: Exercise intolerance GSD IV Muscle Form Infantile neuromuscular form: Presentation at birth with severehypotonia, muscular atrophy and neuronal involvement. Death inneonatal period. Juvenile muscular form: Myopathy +/- cardiomyopathy Mild adult muscular form: Exercise intolerance GSD IX Muscle form Deficiency of muscle a subunit (x-linked) or AR forms (possibly γsubunit)
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 32 and 33: New Biomarkers Serum biotinidase: C

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