MPS IIB


Engelsk navn: Mucopolysaccharidosis type 2, attenuated form
Engelske synonym: Hunter syndrome type B,Iduronate 2-sulfatase deficiency type B,MPS2B,MPSIIB,Mucopolysaccharidosis type 2B,Mucopolysaccharidosis type II, attenuated form,Mucopolysaccharidosis type IIB


Definisjon

Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

Fra Orphanet

ORPHA: 217093
Klassifiseringsnivå: Subtype of disorder
ICD-10: E76.1

Les mer om MPS IIB på orpha.net

Mer informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
Søk på MPS IIB på helsebiblioteket.no


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