Von Geirke's disease occurs due to deficiency of
Ans. a (Glucose-6-Phosphatase) (Ref. Harper 28th/160; 298; Table 19-2)Von Gierke disease (type i) is a Autosomal recessive disease that occurs due to Glucose-6-phosphatase and characterized by Severe fasting hypoglycemia, glycogen in liver, blood lactate, hepatomegaly. Treatment: frequent oral giucose/cornstarch; avoidance of fructose and galactose.Glycogen storage disordersTypeNameEnzyme DeficiencyClinical Features0--Glycogen synthaseHypoglycemia; hyperketonemia; early deathIVon Gierke's diseaseGlucose 6-phosphataseGlycogen accumulation in liver and renal tubule cells; Hyperlipemia, Hyperuricemia Hypoglycemia; Lactic acidemia; ketosis;IIPompe's diseaseLysosomal-1-4 and 1-6 glucosidase (acid maltase)Accumulation of glycogen in lysosomes: juvenile onset variant, muscle hypotonia, death from heart failure by age 2;Q adult onset variant, muscle dystrophyIIILimit dextrinosis, Forbe's or Cori's diseaseDebranching enzyme QFasting hypoglycemia; hepatomegaly(infancy); accumulation of characteristic branched polysaccharideIVAmylopectinosis, Andersen's diseaseBranching enzymeHepatosplenomegaly;accumulation-of polysaccharide with few branch points; death from heart or liver failure in first year of lifeVMyophosphorylase defici McArdle's syndrome0Muscle phosphorylasePoor exercise tolerance; muscle glycogen abnormally high (2.5-4%) Q; blood lactate very low after exerciseVIHers' diseaseLiver phosphorylaseHepatomegaly; accumulation of glycogen in liver; mild hypoglycemia; generally good prognosisVIITarui's 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; 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
Glucose-6-Phosphatase
Liver Phosphorylase
Muscle Phosphorylase
Debranching enzyme
Carbohydrates