Metabolic defect: N-acetyl-galactosamine 4-sulfatase (arylsulfatase B) deficiency Other glycosaminoglycans metabolism diseases (mucopolysaccharidoses): MPS I | MPS II | MPS III | MPS IV | MPS VII

Current page: MPS VI 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 glycosaminoglycan (GAG) dermatan sulfate.

Hernia		Coarse facial features		Corneal clouding		Hepatosplenomegaly

Image Credits: Hernia courtesy of Atlas of Metabolic Diseases, Arnold, 1998. Coarse facial features courtesy of The National MPS Society, Inc. Corneal clouding courtesy of Desnick et al., 2003, with permission from author and publisher.

Progressive disorder with multiple organ and tissue involvement. Wide spectrum of clinical involvement. Onset in late infancy. Growth can be normal for first few years of life but seems to stop after age 6-8; mental development usually normal. Death in 2nd to 3rd decade in severe cases, usually due to heart failure.

Enlarged head and deformed chest, may be present at birth

Umbilical and/or inguinal hernias

Restriction in joint movement

Claw-hand deformities

Carpal tunnel syndrome

Mild to severe facial coarseness

Skeletal deformities, particularly of the pelvis

Corneal opacities

Corneal clouding resulting in visual impairment in some cases

Aortic and mitral valvular dysfunction

Hepatomegaly

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