Conditions / Genetic
mucopolysaccharidosis II
info · Genetic · ICD-10: E76.1
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
Signs and symptoms
- Hepatomegaly
- Thick lower lip vermilion
- Splenomegaly
- Urinary glycosaminoglycan excretion
- Decreased iduronate sulfatase level
- Coarse facial features
- Macrocephaly
- Hepatosplenomegaly
- Dysostosis multiplex
- Flexion contracture
Medications that may treat it
Also known as: Hunter syndrome; Hunter's syndrome; MPS II - Hunter syndrome; Mucopolysaccharidosis, MPS-II; deficiency of iduronate-2-sulphatase