A 10-year-old boy rapidly develops hypoglycemia after moderate activity. Blood examination reveals raised levels of ketone bodies, lactic acid and triglyceides. On examination, liver and kidney were enlarged. Histopathology of liver shows deposits of glycogen in excess amount. Diagnosis?
Correct Answer: Von Gierke's disease
Description: ANS. AGlycogen-storage diseasesTypeDefective enzymeOrgan affectedGlycogen in the affected organClinical featuresI Von GierkeGlucose- 6-phosphataseLiver and kidneyIncreased amount; normal structureMassive enlargement of the liver.Failure to thrive.Severe hypoglycemia, ketosis, hyperuricemia, hyperlipemiaII Pompea-1,4-glucosidase (lysosomal)All organsMassive increase in amount; normal structureCardiorespiratory failure causes death, usually before age 2III CoriAmylo-1,6-glucosidase (debranching enzyme)Muscle and liverIncreased amount; short outer branchesLike type I but milder courseIV AndersenBranching enzyme (a-1, 4 - a-1, 6)Liver and spleenNormal amount; very long outer branchesProgressive cirrhosis of the liver. Liver failure causes death, usually before age 2V McArdlePhosphorylaseMuscleModerately increased amount; normal structureLimited ability to perform strenuous exercise because of painful muscle cramps.Otherwise patient is normal and well developedVI HersPhosphorylaseLiverIncreased amountLike type I, but milder courseVIIPhospho- fructokinaseMuscleIncreased amount; normal structureLike type VVIIIPhosphorylase kinaseLiverIncreased amount; normal structureMild liver enlargement.Mild hypoglycemia# Important points regarding glycogen storage disorders* Most common glycogen storage disorder: Von gierke's disease* Glycogen storage disorder with cardiomegaly:Pompe's* Glycogen storage disorder with liver cirrhosis:Anderson's disease* Burgundy colour urine after exercise:Mcardle disease* Features same as von gierke,but kidneys not enlarged:Cori's* Glycogen storage disorder which is also a lysosomal disorer: Pompe's disease.
Category:
Biochemistry
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