Disease Name | Comments |
---|---|
Hurler syndrome (MPS IH) Scheie syndrome (MPS IS) Hurler-Scheie syndrome (MPS IH/S) | Start of disease: In Hurler syndrome, during the first year of life In Scheie syndrome, after 5 years of age In Hurler-Scheie syndrome, at 3–8 years of age Some symptoms: Cloudy corneas, stiff joints, heavy facial features, coarse hair, large tongue, intellectual disability, heart disease, hearing and vision impairment, inguinal and umbilical hernia, sleep apnea, fluid on the brain Treatment: Symptom relief Enzyme replacement with laronidase Stem cell transplantation or bone marrow transplantation |
Hunter syndrome (MPS II) | Start of disease: Between 2–4 years of age Some symptoms: Similar to Hurler syndrome but milder and no cloudy corneas In the mild form, normal intelligence In the severe form, worsening intellectual and physical disability, death before 15 years of age Treatment: Symptom relief Enzyme replacement with idursulfase Stem cell transplantation or bone marrow transplantation |
Sanfilippo syndrome (MPS III)* | Start of disease: Between 2–6 years of age Some symptoms: Similar to Hurler syndrome but with severe intellectual disability Treatment: Symptom relief |
Morquio syndrome (MPS IV)† | Start of disease: Between 1–4 years of age Some symptoms: Similar to Hurler syndrome but with severe bone changes including underdeveloped bones at the top of the spine; possibly normal intelligence Treatment: Symptom relief For type IVA, enzyme replacement with elosulfase alfa |
Maroteaux-Lamy syndrome (MPS VI) | Start of disease: Varies but can be similar to Hurler syndrome Some symptoms: Similar to Hurler syndrome but normal intelligence Treatment: Symptom relief Enzyme replacement with galsulfase |
Sly syndrome (MPS VII) | Start of disease: Between 1–4 years of age Some symptoms: Similar to Hurler syndrome but more variation in severity Treatment: Symptom relief Stem cell transplantation or bone marrow transplantation |
Hyaluronidase deficiency (MPS IX) | Start of disease: At 6 months of age Some symptoms: Tumors in the soft tissues around joints, abnormally formed features, short stature, normal intelligence Treatment: Not established |
* This mucopolysaccharidosis also includes types IIIA, IIIB, IIIC, and IIID. | |
† This mucopolysaccharidosis also includes types IVA and IVB. |