MPS IIA
Engelsk navn: Mucopolysaccharidosis type 2, severe form
Engelske synonym: Hunter syndrome type A,Iduronate 2-sulfatase deficiency type A,MPS2A,MPSIIA,Mucopolysaccharidosis type 2A,Mucopolysaccharidosis type II, severe form,Mucopolysaccharidosis type IIA
Definisjon
Mucopolysaccharidosis type 2 (MPS2, see this term), 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.
Fra Orphanet
ORPHA: 217085
Klassifiseringsnivå: Subtype of disorder
ICD-10: E76.1