Types of Mucopolysaccharidoses

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

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

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

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

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