glycogen storage diseases

Question 1

von gierke

Answer 1

defective glucose-6 phosphatase
increased glycogen
liver enlargement; failure to trhive, hypoglycemia

Question 2

pompe’s

Answer 2

defective glucosidase

increase in glycogen, cariorespiratory failure causes death

Question 3

mcardle’s

Answer 3

defective phosphorylase
moderately increased amount
limited ability to perform strenuous exercise because of painful muscle cramps
otherwise normal

Question 4

hurler syndrome

Answer 4

L-iduronidase deficiency
abnormal intra-lysosomal accumulation of dermatan and heparan sulfates leading to cell death
developmental delays, mental retardation, coarse fascial features, organomegaly