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

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Glycogen Storage Disordersaffecting Predominately theMuscle
<strong>GSD</strong> V Deficiency of myophosphorylase 1: 100,000 Exercise intolerance: rapid fatigue, myalgia and cramps precipitatedby isometric excercise and sustained aerobic excercise. ‘Second wind’ phenonomen with relief of myalgia after a few minutesof rest. Presentation typically in the second and third decade. ~50% patients have episodes of myoglobinuria with risk of acuterenal failure Heterozygotes at increased risk of statin induced myopathy Management: Avoidance of isometric excercise, caution withanaesthasia. Improved exercise tolerance with aerobic training andpossibly creatine monohydrate and sucrose.
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 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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