What are MPS Diseases?

Mucopolysaccharidoses (MPS) are rare diseases related to limited enzyme production - lysosomal alpha-L-iduronidase - which leads to the buildup of complex carbohydrates in parts of the body. Several health problems are caused by the accumulation of these sugar molecules (mucopolysaccharides or glycosaminoglycans) in the heart, skeleton, eyes, joints, respiratory system, ears, and skin. There are nine types of MPS disorders.

How to diagnose?
This disorder is diagnosed through ECG, an x-ray of the spine, urine, and genetic testing. MPS disorders are also part of the newborn screening test, depending on the state, in the United States.

What is the treatment?
Currently, for certain types of MPS, patients have three options, enzyme replacement therapy, bone marrow, and hematopoietic stem cell transplant.

MPS Diseases

MPS 1 H/S (Hurler/Scheie syndrome)

MPS I H (Hurler disease)

MPS II-(Hunter syndrome)

MPS III A, B, C, and D (Sanfillipo syndrome)

MPS I S (Scheie syndrome)

MPS IV A and B (Morquio syndrome)

MPS IX (Hyaluronidase deficiency)

MPS VII (Sly syndrome)

MPS VI (Maroteaux-Lamy syndrome)

Symptoms include enlarged facial features, vocal cords, liver, and spleen, respiratory issues, sleep apnea, hearing loss, hernias, heart problems, short stature, corneal clouding. 

1,000 to 100,000Estimated Cases Worldwide


Wide Range by Type:

Short stature

Irregular breathing

Enlarged spleen and heart

Joint issues

*See details for each type


Enzyme Replacement Therapy (ERT)
Bone marrow
Cell transplant