Metabolic defect: iduronate sulfate sulfatase deficiency Other glycosaminoglycans metabolism diseases (mucopolysaccharidoses): MPS I | MPS III | MPS IV | MPS VI | MPS VII

Current page: MPS II Select Another Disease Select disease Acid sphingomyel. def. Aspartylglycosaminuria Cystinosis Fabry disease Farber disease Fucosidosis type I Fucosidosis type II Galactosialidosis Gaucher type I Gaucher type II Gaucher type III GM1 gangliosidosis I GM1 gangliosidosis II GM1 gangliosidosis III Infantile sialic acid Krabbé disease Mannosidosis Metachr. leukodys. I Metachr. leukodys. II Metachr. leukodys. III MPS I MPS II Hunter MPS III Sanfilippo MPS IV Morquio MPS VI Maroteaux-Lamy MPS VII Sly Mucolipidosis II Mucolipidosis III Mucolipidosis IV Neuro ceroid lipof I Neuro ceroid lipof II Neuro ceroid lipof III Neuro ceroid lipof IV Pompe disease Pycnodysostosis Salla disease Sandhoff type I Sialidosis type I Sialidosis type II Tay-Sachs type I Tay-Sachs type II Tay-Sachs type III

Enzyme deficiency results in progressive accumulation of the glycosaminoglycans (gags) dermatan sulfate and heparan sulfate.

Coarse facial features		Umbilical and inguinal (groin) hernia

Image Credits: Coarse facial features courtesy of The National MPS Society, Inc. Umbilical and inguinal (groin) hernia courtesy of www.medcyclopaedia.com.

Progressive disorder with multiple organ and tissue involvement. Airway obstruction and cardiac failure are the most common direct causes of death. Progression and severity of disease are highly variable within the spectrum.

Severe form:

Onset usually occurs between 2 and 4 years of age

Progressive neurologic and somatic involvement

Death usually occurs by age 10

Mild form:

Symptoms similar to severe form, but at a reduced rate of progression

Survival into adulthood is possible

Severe form:

Mental retardation

Progressive hearing loss

Progressive hearing impairment

Mild form: hearing impairment

Severe form: retinal degeneration, no corneal clouding

Mild form: retinal dysfunction (less severe than in severe MPS II)

Severe form:

Recurrent ear infections

Upper airway obstruction

Progressive hearing loss

Severe form:

Coarse facial features

Skeletal deformities

Joint stiffness

Mild form:

Carpal tunnel syndrome

Joint stiffness

Back to categories

Severe form: short stature

Severe form: Chronic diarrhea

Severe form:

Valvular dysfunction

Myocardial thickening

Pulmonary hypertension

Coronary artery narrowing

Severe and mild forms: pebbly, ivory-colored skin lesion over back, upper arms, and thighs

Back to categories

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: The Metabolic Bases of Inherited Disease. New York: mcgraw Hill, 2001; 3421-3452.

2. Clarke LA. Clinical diagnosis of lysosomal storage diseases. In: Applegarth DA, Dimmick JE, JG Hall. Organelle Diseases: Clinical Features, Diagnosis, Pathogenesis and Management. London: Chapman and Hall 1997; 37-71.

3. www.pitt.edu/afshome/g/e/geneorb/public/html/courses/lyso_trials/hunter.html Accessed July 2004.

4. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of Lysosomal Storage Disorders. JAMA. 1999; 281: 249-254.