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Lysosomal Diseases

MGM Exam 2

DiseaseDescription
Hurler syndrome enzyme: alpha-L-iduronidase accumulation of HS and DS symptoms: MR, dystosis multiplex, corneal clouding (LSD I)
Hunter syndrome enzyme: iduronate sulfatase accumulation of HS and DS symptoms: mild LSD I without corneal clouding X-LINKED!!!! (LSD II)
Sanfillipo Syndrome A enzyme: heparan N-sulfamidase accumulation of HS symtoms: severe CNS (LSD IIIa)
Sanfillipo Syndrome B enzyme: N-acetyl-alpha-D-glucosaminidase accumulation of HS symptoms: severe CNS effects (GSD IIIb)
Morquio Syndrome enzyme: hexosamine-6-sulfatase accumulation of KS symptoms: bone changes and cloudy cornea, does not affect intelligence (LSD IV)
Maroteaux-Lamy Syndrome enzyme: arylsufatase B accumulation of DS symptoms: severe bone and soft tissue change with corneal change (LSD VI)
Mucolipidosis (LSD VII) enzyme: beta-glucouronidase accumulation of HS and DS symptoms: hepatosplenomegaly and dysostosis multiplex
I-cell disease inability to phosphorylate mannose, can't get lysosomal enzymes into lysosomes; dysostosis multiplex
Created by: insanejuliafan
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