Hereditary Glycogen Storage Diseases Type 1 11 Iii Iv V Vi Vii Viii Ix 0 Enzyme Deficiency Glucose 6 Phosphatase A 1 4 G 1 (60.67 KiB) Viewed 41 times
Hereditary Glycogen Storage Diseases Type 1 11 Iii Iv V Vi Vii Viii Ix 0 Enzyme Deficiency Glucose 6 Phosphatase A 1 4 G 2 (39.82 KiB) Viewed 41 times
Hereditary Glycogen Storage Diseases Type 1 11 III IV V VI VII VIII IX 0 Enzyme Deficiency Glucose-6-phosphatase a-1,4-Glucosidase Amylo-1,6-glucosidase (debranching enzyme) Amylo-(1,4-1,6)-transglycosylase (branching enzyme) Glycogen phosphorylase Glycogen phosphorylase Phosphofructokinase Phosphorylase kinase Phosphorylase kinase Glycogen synthase Box 16-2 table 2013 John Wiley & Sons, Inc. All rights reserved. Tissue McArdle's disease Liver All lysosomes All organs Liver, probably all organs Muscle Liver Muscle Liver All organs Liver Common Name von Gierke's disease Pompe's disease Cori's disease Andersen's disease McArdle's disease Hers' disease Tarul's disease X-Linked phosphorylase kinase deficiency Glycogen Structure Normal Normal Outer chains missing or very short Very long unbranched chains Normal Normal Normal Normal Normal Normal, deficient in quantity A 6 month old infant who is failing to thrive is brought to the clinic. Tests reveal hepatosplenomegaly (enlarged liver and spleen) and muscle weakness and atrophy. Blood tests reveal the infant has normal glucose levels. Biopsy of the liver reveals initial stages of cirrhosis due to accumulation of an abnormal glycogen with few branch points whose structure resembles amylopectin. The baby is most likely suffering from which of the above glycogen storage diseases? (choose one best answer)
A 6 month old infant who is failing to thrive is brought to the clinic. Tests reveal hepatosplenomegaly (enlarged liver and spleen) and muscle weakness and atrophy. Blood tests reveal the infant has normal glucose levels. Biopsy of the liver reveals initial stages of cirrhosis due to accumulation of an abnormal glycogen with few branch points whose structure resembles amylopectin. The baby is most likely suffering from which of the above glycogen storage diseases? (choose one best answer) McArdle's disease Anderson's disease Taru's disease Cori's disease von Gierke's disease
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