Hunter syndrome

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Hunter syndrome

[′hənt·ər ‚sin‚drōm]

(medicine)

An X-linked recessive disease in which a deficiency of the enzyme iduronate sulfatase leads to the accumulation of mucopolysaccharides in various body tissues, resulting in developmental abnormalities, skeletal deformations, mental retardation, and, in severe cases, early death. Also known as mucopolysaccharidosis II.

Mentioned in ?

mucopolysaccharidosis

References in periodicals archive ?

A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr.

Bir Mukopolisakkaridoz Tip II Olgusunda Zor Hava Yolu Yonetimi/Management of Difficult Airway in a Patient with Mucopolysaccharidosis Type II

In vivo genome editing programs: Sangamo today also provided an update on its in vivo genome editing programs: SB-913 (mucopolysaccharidosis type II, or MPS II), SB-318 (MPS I), and SB-FIX (hemophilia B).

United States : Sangamo Provides Clinical Development Update Including Early Phase 1/2 Beta Thalassemia Gene-edited Cell Therapy Data

Hunter syndrome (Mucopolysaccharidosis type II) is an inherited lysosomal storage disease that occurs primarily in boys.

GC Pharma & Clinigen KK partnership to commercialise Hunter syndrome drug in Japan

In most cases, such a condition in a young child tells doctors something else is at work, and genetic testing revealed a diagnosis that Emily and Steve struggled to pronounce or comprehend at first -- Mucopolysaccharidosis Type II, or Hunter syndrome, a genetic disorder that affects boys almost exclusively.

Hanging in there, against all odds

The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life.

Michigan Hand Outcomes Questionnaire for the Evaluation of Patients with Mucopolysaccharidosis

Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is one of the seven types of MPS I, II, III, IV, VI, VII, IX.

Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey

Scarpa, "Mucopolysaccharidosis type II," in GeneReviews, R.

Unexpected Exacerbation of Tracheal Stenosis in a Patient with Hunter Syndrome Undergoing Cardiac Surgery

Hunter syndrome (mucopolysaccharidosis type II (MPS II)) is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).

Hunter Syndrome Diagnosed by Otorhinolaryngologist

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary managementofararedisease.OrphanetJRareDis.2011;6:1-18.

Ethical issues in managing Lysosomal storage disorders in children in low and middle income countries

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate 2-sulfatase.

Mediastinal Tracheostoma for Treatment of Tracheostenosis after Tracheostomy in a Patient with Mucopolysaccharidosis-Induced Tracheomalacia

Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples.

Newborn screening for lysosomal storage diseases

Also among the participants were three brothers afflicted with Hunter syndrome (mucopolysaccharidosis type II) where an enzyme needed to break down complex sugar in the body is either missing or malfunctioning.