Nsindrome de hunter pdf

The lack of this enzyme causes heparan sulfate and. The objective of this study was to describe this impact using the hunter syndromefunctional outcomes for clinical understanding scale hs. Hunter syndrome mucopolysaccharidosis type ii mps ii is a rare metabolic disease that can severely compromise health, wellbeing and life expectancy. A genetic metabolic disorder that arises from deficiency of the enzyme iduronate sulfatase, resulting in tissue deposits of molecules called mucopolysaccharides. Their bodies cant break down a kind of sugar that builds. Their bodies cant break down a kind of sugar that builds bones, skin, tendons, and other tissue. Early symptoms include inguinal hernia, ear infections, and frequent colds. The impact of hunter syndrome mucopolysaccharidosis type. Hunter syndrome, or mucopolysaccharidosis type ii mps ii, is a rare genetic disorder in which large sugar molecules called glycosaminoglycans aka gags, or mucopolysaccharides build up in body tissues. The authors present a case of marcus gunn syndrome, whose major feature is the synkinetic movement between mastication muscles and the upper eyelid, present in five per cent of the cases of congenital blepharoptosis. Listen to yadam hunter conde soundcloud is an audio platform that lets you listen to what you love and share the sounds you create 34 followers.

The characteristic features of hunter syndrome include dwarfism, bone deformities, a thickened, coarse face. Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. Hunter syndrome symptoms usually become noticeable after the first year of life. It interferes with the bodys ability to break down and recycle specific mucopolysaccharides. Hunter syndrome, also called mucopolysaccharidosis ii or mps ii, is a rare disease thats passed on in families. Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate2sulfatase i2s. Guidelines for diagnosis and treatment of hunter syndrome. Hunter syndrome is inherited as an xlinked recessive trait.