Glycogen storage disorder due to muscle phosphorylase deficiency –
Correct Answer: McArdle's disease
Description: 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
Category:
Biochemistry
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now