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©2013 UpToDate ® Print Email Biochemical and clinical features of the mucopolysaccharidoses Type Common name Enzyme deficient Substrate accumulated Usual age at diagnosis Key distinct findings Skeletal disease, soft tissue storage, and a range of CNS disease MPS I Hurler α-L-iduronidase Heparan sulfate Dermatan sulfate 1-2 y Developmental delay, severe coarse facies, hepatosplenomegaly, airway obstruction, dystosis multiplex, often placid and loving, death by age 10 years Hurler-Scheie 1-5 y Micrognathia, toe walking, moderate coarse facies, possible normal intelligence, death by 20s Scheie 3-15 y Aortic valve, joint dz, corneal clouding, normal facies, death in decades MPS II Hunter severe Iduronate sulfatase Heparan sulfate Dermatan sulfate 1-3 y No corneal clouding, physical disease similar to MPS I, aggressive behavior and developmental delay Hunter mild 1-5 y Normal or near-normal intelligence MPS VII Sly β-glucoronidase Heparan sulfate Dermatan sulfate Birth-5 y Variable intermediate presentation similar to MPS I, death in teens Fetal hydrops In utero to birth Hydrops in utero Mild Teens-20s Mild skeletal dz with death in decades Skeletal disease and soft tissue storage MPS VI Maroteaux-Lamy severe N-acetylgalacto- samine-4-sulfatase (arylsulfatase B) Dermatan sulfate 1-5 y Like MPS I without CNS disease, pachymeningitis cervicalis, death in teens and 20s Maroteaux-Lamy mild 3-12 Death in decades Skeletal, cartilage, and ligament disease primarily MPS IV A Morquio type A N-acetylgalactosamine-6-sulfatase Keratan sulfate 1-5 y for severe forms Skeletal disease (similar to spondyloepiphysial dysplasia) with short stature, ligamentous laxity, corneal opacities MPS IV B Morquio type B Beta-galactosidase Skeletal disease with short stature MPS IX Natowicz syndrome Hyaluronidase Hyaluronan Only one case reported Nodular synovium, popliteal cyst, large joint effusion CNS disease primarily, with less skeletal and soft tissue disease MPS III A Sanfilippo A Sulfamidase Heparan sulfate 2-6 y Aggressive behavior followed by progressive neurologic decline MPS III B Sanfilippo B α-N-acetylglucosaminidase Heparan sulfate 2-6 y Aggressive behavior followed by progressive neurologic decline MPS III C Sanfilippo C GAC-acetylase Heparan sulfate 2-6 y Aggressive behavior followed by progressive neurologic decline MPS III D Sanfilippo D N-acetylglucosamine-6-sulfatase Heparan sulfate 2-6 y Aggressive behavior followed by progressive neurologic decline