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Anonymous
09-22-2004, 05:40 AM
Question NO.36
you are paedtrician . oneday a family came with a child whose age is 5
months old. father of the child say that his wife is daughter of his
uncle . when you obseve the patient , the child is lethargic, thin and small
for age. when you start physical examination you find that gums of the
patient are underdeveloed and there is also clouding of the corneas. you find that patient is mentally retrared . the movement of joint is also
restricted. his liver is not enlarged. you orders some tests . the labrotary report that there is no mucopolysaccrides in the urine but acid hydrolases was found that are highly elvated. what do you think where is abnormality that lead all above features

A) mutaion in the aminoacid sequence of the protein
B) the is a loss of some signalling sequence that target the enzyme for
intracellular site
C) enzyme is not forming in thier normal quantities
D) enzyme formed but have not tertiay structure that is neceeasry for
their action
E) there is abnormal receptor

(this is question is made by GOGI's PICKS)