MPS VII. Sly disease. Beta-glucuronidase deficiency.
Incidence
Very rare. AR inheritance. It is a beta-glucuronidase deficiency.
Clinical Characteristics
Skeletal findings similar to Morquio\'s. Corneal clouding. Variable clinical manifestations with mild to severe osseous and visceral abnormalities.. Neurological features absent to severe. May mimic Hurler disease.
Precipitants
no
Provocation Tests
no no
Diagnostic Procedures
EB(F), Urine metabolic screen with Berry test. MPS (HS & DS) in urine.