Aspartylglycosaminuria

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.

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