Glycogen storage disorder due to muscle phosphorylase deficiency -
Ans. A. McArdle's diseaseTypeNameEnzyme DeficiencyClinical Features0--Glycogen synthaseHypoglycemia; hyperketonemia; early deathIaVon Gierke diseaseGlucose-6-phosphataseGlycogen accumulation in liver and renal tubule cells; hypoglycemia; lactic acidemia; ketosis; hyperlipemiaIb Endoplasmic reticulum glucose-6-phosphate transporterAs type Ia; neutropenia and impaired neutrophil function leading to recurrent infectionsIIPompe diseaseLysosomal a1 -4 and a1 -6 glucosidase (acid maltase)Accumulation of glycogen in lysosomes: juvenile onset variant, muscle hypotonia, death from heart failure by age 2; adult onset variant, muscle dystrophyIIIaLimit dextrinosis, Forbe or Cori diseaseLiver and muscle debranching enzymeFasting hypoglycemia; hepatomegaly in infancy; accumulation of characteristic branched polysaccharide (limit dextrin); muscle weaknessIIIbLimit dextrinosisLiver debranching enzymeAs type IIIa, but no muscle weaknessIVAmylopectinosis, Andersen diseaseBranching enzymeHepatosplenomegaly; accumulation of polysaccharide with few branch points; death from heart or liver failure before age 5VMyophosphorylase deficiency, McArdle's syndromeMuscle phosphorylasePoor exercise tolerance; muscle glycogen abnormally high (2.5%-4%); blood lactate very low after exerciseVIHers diseaseLiver phosphorylaseHepatomegaly; accumulation of glycogen in liver; mild hypoglycemia; generally good prognosisVIITarui diseaseMuscle and erythrocyte phosphofructokinase 1Poor exercise tolerance; muscle glycogen abnormally high (2.5%-4%); blood lactate very low after exercise; also hemolytic anemiaVIII Liver phosphorylase kinaseHepatomegaly; accumulation of glycogen in liver; mild hypoglycemia; generally good prognosisIX Liver and muscle phosphorylase kinaseHepatomegaly; accumulation of glycogen in liver and muscle; mild hypoglycemia; generally good prognosisX cAMP-dependent protein kinase AHepatomegaly; accumulation of glycogen in liver
McArdle's disease
Pompe's disease
Andersen's disease
Tarui's disease
Glycogen Metabolism and Glycogen Storage