Mucopolysaccharidosis type 2, severe form
ORPHA:217085· ICD-10 E76.1
Definition
Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Childhood