MPS & Other
Rare Genetic Diseases

Mucopolysaccharidoses, commonly referred to as MPS, are a group of rare genetic metabolic disorders, and are regarded as lysosomal storage disorders.

Normally, the body makes enzymes to break down materials for our cells. For people with MPS and related diseases, the missing or insufficient enzyme prevents that normal process for the sugar glycosaminoglycans (or mucopolysaccharides), so they become stored in almost every cell of the body. As a result, cells do not function properly and cause progressive damage to the person throughout the body, including the heart, bones, joints, respiratory system, and nervous system. While the disease is not immediately apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell deposits. Most patients usually do not live through their twenties.

Mucopolysaccharidoses exist in a total of seven types — MPS I, II, III, IV, VI, VII, IX — and numerous subtypes. There are no type V and VIII. The seven types are subdivided to subtypes according to enzyme defect and symptoms shown by the body. Although each type of MPS is clinically different, most patients generally experience a period of normal development and then followed by a decline in physical and/or mental function.

Hurler
Syndrome
MPS 1-H

Incidence Estimates

 
 
 
About 1 per 100,000 births
 

Cause

 
 
 
Lack of the enzyme alpha-L-iduronidase
 
 
 
 
Both parents also carry the defective gene
 

Symptoms and Treatments

 
 
 
 
 
MPS I therapy approval dates: Aldurazyme (laronidase) – Hong Kong: Mar 2008; FDA: 30 Apr 2003; EMEA: Jun 2003
Hurler-Scheie
Syndrome
MPS 1-HS

Incidence Estimates

About 1 per 115,000 births

Cause

Lack of the enzyme alpha-L-iduronidase
Both parents also carry the defective gene

Symptoms and Treatments

MPS I therapy approval dates: Aldurazyme (laronidase) – Hong Kong: Mar 2008; FDA: 30 Apr 2003; EMEA: Jun 2003

Number of MPS patients = 27

Number of patients with rare diseases = 35

Total Number of MPS + Rare Diseases Patients = 63

Updated: 11 July 2023

* Note: Patient figures according to the number of patients who contacted our organization.

For information about other organizations and treatments for rare genetic diseases, please click here.