Answer to medical mcq 7

 

answer is 4

homocystinuria , it is cystathionine synthase deficiency. This enzyme occurs in the pathways involving the metabolism of sulfur-containing amino acids, and normally catalyzes the conversion of homocysteine to cystathionine. It is associated with MR , Joint stiffness and skeletal deformity,Regard other answer,Ehler -Danlos syndrome and marfan syndrome caouse loosey joint and MR is not a ssociated feature.strickler syndrome associated with catarat and enlarged and degenrative joints.The benign familial joint hypermobility is associated with hypermobile not stiff joint

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