diseases Flashcards
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
2
Q
treatments for hurler syndrome
A
Enzyme replacement therapy
& bone marrow replacement