| 释义 |
DictionarySeemucopolysaccharidosismucopolysaccharidosis IS
mucopolysaccharidosis IS Scheie's disease An AR mucopolysaccharidosis which, like Hurler syndrome, is characterized by a defect of α-l-iduronidase and excretion of ↑ dermatan sulfate in urine Clinical MPS-IS is the mildest form mucopolysaccharidosis; onset at age 4–5, including inguinal hernia, broad mouth with full lips, early onset corneal clouding, early onset of stiff joints, claw hands and deformed feet, aortic valve defectsmucopolysaccharidosis ISMucopolysaccharidosis due to the same enzyme defect as MPS IH and with similar clinical characteristics, except mental retardation is absent. Synonym: Scheie's syndromeSee also: mucopolysaccharidosis |