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Lysosomal Diseases
MGM Exam 2
Disease | Description |
---|---|
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 |