Hunter Syndrome

The mini review of Hunter syndrome aimed to explore etiology, incidence, clinical manifestations, diagnosis and treatment by reviewing recent literatures. Hunter syndrome (mucopolysaccharidosis II: MPS II) is a genetic lysosomal storage disease which is rare, It's caused by deficiency of the enzyme iduronate-2-sulfatase (I2S). Initial manifestations of Hunter syndrome are not present at birth, but often begin around ages of 2 to 4, which may include macrocephaly, thickened lips, facial features with typical coarseness like a prominent forehead, a nose with a flattened bridge, and an enlarged protruded tongue, cardiomyopathy, bone deformities, Mongolian spots over the buttocks and neurologic deficits. Hunter syndrome is commonly diagnosed by urine test for glycosaminoglycans (GAGs). Management of MPS II involves palliative treatment, or hematopoietic stem cell therapy (HSCT) which is more effective at an early stage than the enzyme replacement therapy (ERT) by Idursulfase. Intrathecal ERT is under clinical trial and fusion protein treatments, and gene therapy is under development.