MPS I. Scheie disease.
Incidence
Rare, less frequent than other MPS. AR inheritance. It was classified in the past as MPS V. It is a alpha-L-iduronidase deficiency. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression.
Clinical Characteristics
Mild skeletal changes. No mental retardation. Severe corneal opacity (striking feature) may occur in early life. No dwarfism. Stiff joints, claw hands, carpal tunnel syndrome. Rare cervical cord compression. Hepatomegaly. Aortic valve disease. Hearing defects described. Typical facial appearence but not gargoil-like. Long survival.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB(F), Urine metabolic screen with Berry test. MPS (DS) in urine. The earlier diagnostic tests for the MPS disorders were based on the urinary excretion of glycosaminoglycans (MPS). Definitive diagnosis is established by alpha-L-iduronidase enzyme assay using artificial substrates (fluorogenic or chromogenic) in cultured fibroblasts or isolated leukocytes. Prenatal diagnosis is possible on both cultured amniotic fluid cells and chorionic villus biopsies