Type | Common name | Inheritance | Enzyme deficient | Genes | Substrate accumulated | Usual age at diagnosis | Key distinct findings |
Skeletal disease, soft tissue storage, and a range of CNS disease | |||||||
MPS I | Hurler (severe) | AR | Alpha-L-iduronidase | IDUA | Heparan sulfate, dermatan sulfate | 1 to 2 years | Developmental delay, severe coarse facies, hepatosplenomegaly, airway obstruction, dysostosis multiplex, often placid and loving, death by age 10 years |
Hurler-Scheie (intermediate) | 1 to 5 years | Micrognathia, toe walking, moderate coarse facies, possible normal intelligence, death by 20s | |||||
Scheie (least severe form) | 3 to 15 years | Aortic valve, joint disease, corneal clouding, normal facies, death in decades | |||||
MPS II | Hunter (severe) | X linked | Iduronate sulfatase | IDS | Heparan sulfate, dermatan sulfate | 1 to 3 years | No corneal clouding, physical disease similar to MPS I, aggressive behavior and developmental delay |
Hunter (mild) | 1 to 5 years | Normal or near-normal intelligence | |||||
MPS VII | Sly | AR | Beta-glucuronidase | GUSB | Heparan sulfate, dermatan sulfate | Birth to 5 years | Variable intermediate presentation similar to MPS I, death in teens |
Fetal hydrops | In utero to birth | Hydrops in utero, lethal | |||||
Mild | Teens to 20s | Mild skeletal disease with death in decades | |||||
Skeletal disease and soft tissue storage without CNS disease | |||||||
MPS VI | Maroteaux-Lamy (severe) | AR | N-acetylgalactosamine-4-sulfatase (arylsulfatase B) | ARSB | Dermatan sulfate | 1 to 5 years | Like MPS I without CNS disease, pachymeningitis cervicalis, death in teens and 20s, can have corneal clouding |
Maroteaux-Lamy (mild) | 3 to 12 years | Death in decades | |||||
Skeletal, cartilage, and ligament disease primarily; no CNS disease | |||||||
MPS IV A | Morquio type A | AR | N-acetylgalactosamine-6-sulfatase | GALNS | Keratan sulfate | 1 to 5 years for severe forms | Skeletal disease (similar to spondyloepiphysial dysplasia) with short stature, hip dysplasia, scoliosis, ligamentous laxity, corneal opacities |
MPS IV B | Morquio type B | Beta-galactosidase | GLB1 | Skeletal disease with short stature | |||
MPS IX | Natowicz syndrome | Hyaluronidase | HYAL1 | Hyaluronan | Only 1 case reported | Nodular synovium, popliteal cyst, large-joint effusion | |
CNS disease primarily, with less skeletal and soft-tissue disease | |||||||
MPS III A | Sanfilippo A | AR | Heparan N-sulfatase | SGSH | Heparan sulfate | 2 to 6 years | Aggressive behavior followed by progressive neurologic decline |
MPS III B | Sanfilippo B | Alpha-N-acetylglucosaminidase | NAGLU | ||||
MPS III C | Sanfilippo C | Heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase | HGSNAT | ||||
MPS III D | Sanfilippo D | N-acetylglucosamine-6-sulfatase | GNS |
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