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What is Hypoglycemia, hepatomegaly, growth retardation, muscle weakness and accumulation of limit dextrins is caused by which glycogen storage disease? and explain in detail?
a. Cori's disease(Ref: Nelson's 20/e p 715-725, Ghai 8/e p 655-657)Important Glycogen Storage Diseases:TypeNameEnzyme deficientCharacteristicsType IVon Gierke's diseaseGlucose-6-phosphataseLiver and renal tubule cells loaded with glycogen. Hypo-glycemia, lactic acidemia, ketosis, hyperlipidemia.Type IIPompe's diseaseLysosomal a-1 - 4 and 1 - 6-glucosidase(acid maltaseFatal, accumulation of glycogen in lysosomes, heart failure; muscle involvement seenType IIILimit dextrinosis, or Cori's diseaseDebranching enzymeAccumulation of a characteristic branched polysaccharide (resembling 'Limit dextrin')Type IVAmylopectinosis, Andersen's diseaseBranching enzymeAccumulation of a polysaccharide having few branch points. Death due to cardiac or liver failure in 1st year of life.Type VMcArdle's diseaseMuscle phosphorylaseDiminished exercise tolerance; Little or no lactate in blood after exercise; exercise-induced myoglobinuria secondary to rhabdomyolysis seenType VIHers diseaseLiver phosphorylaseQHigh glycogen content in liver, tendency towards hypoglycemia; Ketosis seen;Type VIITarui's diseasePhosphofructokinase in muscle and erythrocytesAs for type V + hemolytic anemia.