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

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PompeDisease 2 main forms: Infantile: Presentation in the first few months of life Feeding difficulties Failure to thrive Respiratory infections Hypotonia Hypertrophic cardiomyopathy Almost invariably fatal by 12 months of age (without treatment) Late-onset Pompedisease Presentation from infancy to late adulthood Predominately skeletal muscle dysfunction Muscle weakness (mobility problems) Respiratory problems
Pompe Disease Management• Respiratory therapy• Physiotherapy• Enzyme replacementtherapy•IV administration ofsynthetic enzyme•Some patients respondbetter than others•Some patients developinhibitory antibodiesagainst ERT
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 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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