Hunter syndrome, or mucopolysaccharidosis II, is a genetic disorder caused by a deficiency of iduronate 2-sulfatase (I2S), an enzyme involved in the breakdown of mucopolysaccharides.
A 25-year-old woman presents for a prenatal visit. She has an unremarkable medical history except for hypermobility of the joints and a tendency to bruise easily. Her mother and sister also have very lax...
A 17-year-old girl presented to her pediatrician with a request for reevaluation of her numerous symptoms that she believed had been misdiagnosed as anxiety disorder and chronic fatigue syndrome.