Early development is normal in this disease but patients later develop recurrent respiratory infections, diarrhoea and hernias. Mental retardation is initially mild but more severe by school age. There is a slow coarsening of facial features. Other features include skeletal dysplasia, joint hypermobility, cardiac valvular involvement and, rarely, angiokeratoma.

Enzyme Tests:
Aspartylglucosaminidase is deficient in this disease.

Back to Lysosomal Storage Disorders Index

Back to Alphabetical List of Assays Available