MPS and Related Diseases

Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases (LSD) caused by the body's inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials.

Now it's easier!!! MPS Library...

Now it's easier to find the information you need. In a continuing effort to provide support and information to individuals about mucopolysaccharidoses and related diseases, the National MPS Society has created a central location for more information on MPS...

Click here to go to the MPS Library...

MPS Diseases

The National MPS Society provides support to families and promotes research initiatives that affect the following diseases:

MPS I

Hurler Syndrome
Scheie Syndrome
Hurler-Scheie Syndrome

MPS II

Hunter Syndrome

MPS III

Sanfilippo A
Sanfilippo B
Sanfilippo C
Sanfilippo D

MPS IV

Morquio A
Morquio B

MPS V

Formerly Scheie Syndrome

MPS VI

Maroteaux-Lamy

MPS VII

Sly Syndrome

ML Diseases

I-Cell disorder and Pseudo-Hurler Poldystrophy are forms of a condition known as mucolipidoses. They are also known as ML II and ML III.

The name I-Cell comes from the characteristic appearance of cells under a microscope. One of the first doctors to write about the condition in the 1960's was a Dr. Jules LeRoy from Belgium and his name is sometimes used to refer to I-Cell disorder.

ML III was described by Dr. Maroteaux and Dr. Lamy from France. They called it Pseudo-Hurler Polydystrophy as it resembled a mild form of Hurler Syndrome, one of the mucopolysaccharide disorders. "Polydystrophy" means that many organs are abnormal.