diseases Flashcards

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1
Q

Hurler syndrome

A

due to a deficiency of iduronidase

abnormal bone structure and developmental delay)

Build up of the glycosaminoglycan Heparan sulfate (long chain sugar molecules often found in mucus & fluid around the joints

An enzyme responsible for the degradation of mucopolysaccharides in lysosomes

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2
Q

treatments for hurler syndrome

A

Enzyme replacement therapy

& bone marrow replacement

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