"MPS II" redirects here. For the Chinese romanization system, see Mandarin Phonetic Symbols II.
Medical condition
Hunter syndrome
Patient with Hunter syndrome
Specialty
Endocrinology
Symptoms
Skeletal abnormalities, hearing loss, retinal degeneration, enlarged liver and spleen
Complications
Upper airway disease; cardiovascular failure
Causes
Defiency of the enzyme iduronate-2-sulfatase
Differential diagnosis
Mucopolysaccharidosis type I; other mucopolysaccharidoses
Prognosis
In severe cases, death usually occurs by age 15. In attenuated cases, patients may survive into their 50s
Frequency
1 in 100,000 to 150,000 male births[1]
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder in which large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) build up in body tissues. It is a form of lysosomal storage disease. Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).[2][3] The lack of this enzyme causes heparan sulfate and dermatan sulfate to accumulate in all body tissues.[4] Hunter syndrome is the only MPS syndrome to exhibit X-linked recessive inheritance.[4]
The symptoms of Hunter syndrome are comparable to those of MPS I. It causes abnormalities in many organs, including the skeleton, heart, and respiratory system. In severe cases, this leads to death during the teenaged years. Unlike MPS I, corneal clouding is not associated with this disease.[1]
^ ab"Mucopolysaccharidoses Fact Sheet". National Institute of Neurological Disorders and Stroke. 15 November 2017. Retrieved 11 May 2018.
^Wraith JE, Scarpa M, Beck M, et al. (March 2008). "Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy". Eur. J. Pediatr. 167 (3): 267–77. doi:10.1007/s00431-007-0635-4. PMC 2234442. PMID 18038146.
^James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 544. ISBN 978-0-7216-2921-6.
^ abLe, Tao; Bhushan, Vikas; Hofmann, Jeffrey (2012). First Aid for the USMLE Step 1. McGraw-Hill. p. 117.
Huntersyndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder in which large sugar molecules called glycosaminoglycans (or GAGs...
gene from both parents are affected. (The exception is MPS II, or Huntersyndrome, in which the mother alone passes along the defective gene to a son...
to Hunter syndrome (MPS II); however, Huntersyndrome is X-linked, while Hurler syndrome is autosomal recessive. Children with Hurler syndrome may appear...
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects...
syndrome; neurocardiofacial-cutaneous syndromes such as Noonan syndrome, Costello syndrome, Gorlin syndrome, (also known as basal cell nevus syndrome)...
MPS I Hurler syndrome MPS I S Scheie syndrome MPS I H-S Hurler–Scheie syndrome Type II (Huntersyndrome) Type III (Sanfilippo syndrome) MPS III A (Type...
Miescher's syndrome Morquio syndrome Morquio syndrome type A Morquio syndrome type B MPS 3 C MPS 3 D Mucolipidosis III Mucopolysaccharidosis type 2 Hunter syndrome-...
of Hurler Syndrome was identified by Dr. Harold G. Scheie, an ophthalmologist, leading to the designation of Scheie syndrome. Huntersyndrome (MPS II)...
Serotonin syndrome (SS) is a group of symptoms that may occur with the use of certain serotonergic medications or drugs. The symptoms can range from mild...
posterior fossa stroke. Vertebrobasilar insufficiency, notably Bow Hunter'ssyndrome, is a rare cause of positional vertigo, especially when vertigo is...
lysosomal storage diseases: Gaucher disease, Fabry disease, MPS I, MPS II (Huntersyndrome), MPS VI and Pompe disease. ERT does not correct the underlying genetic...
may have its basis in humans suffering a medical condition; possibly Huntersyndrome, she suggests. This theoretical basis of wulver lore has been criticised...
recessive connective tissue disorder included in the spectrum of cutis laxa syndromes. Usage of the name "Walt Disney dwarfism" is attributed to the first known...
medical example is a heterokaryon composed of nuclei from Hurler syndrome and Huntersyndrome. Both of these diseases result in problems in mucopolysaccharide...
from autosomal traits. One example of an X-linked trait is Coffin–Lowry syndrome, which is caused by a mutation in ribosomal protein gene. This mutation...
deletion syndrome in which multiple genes are involved. All forms of MPS are inherited in an autosomal recessive pattern, except fir of MPS II; Hunter syndrome...
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