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Morquio syndrome information


Morquio syndrome
Other namesMucopolysaccharidosis IV, MPS IV, Morquio-Brailsford syndrome, or Morquio[1]
Patient with Morquio syndrome
SpecialtyEndocrinology Edit this on Wikidata
ComplicationsSkeletal abnormalities, hearing loss, pulmonary failure, heart disease
Usual onsetBirth; condition usually becomes apparent between ages 1 and 3
DurationLifelong
TypesType A and Type B
CausesInherited deficiency of enzymes
TreatmentElosulfase alfa (Vimizim) for Type A; no approved treatment for Type B
PrognosisReduced lifespan. Usually death occurs in 20s to 30s
Frequency1 in 200,000 to 1 in 300,000

Morquio syndrome, also known as mucopolysaccharidosis type IV (MPS IV), is a rare metabolic disorder in which the body cannot process certain types of sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides). In Morquio syndrome, the specific GAG which builds up in the body is called keratan sulfate. This birth defect, which is autosomal recessive, is a type of lysosomal storage disorder. The buildup of GAGs in different parts of the body causes symptoms in many different organ systems.[2]: 544  In the US, the incidence rate for Morquio syndrome is estimated at between 1 in 200,000 and 1 in 300,000 live births.[1][3]

  1. ^ a b "MPS IV (Morquio syndrome)". MPSSociety.org. National MPS Society. Archived from the original on 21 August 2017. Retrieved 14 January 2015.
  2. ^ James, William D.; Berger, Timothy G. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  3. ^ Prat C, Lemaire O, Bret J, Zabraniecki L, Fournié B (May 2008). "Morquio syndrome: Diagnosis in an adult". Joint Bone Spine. 75 (4): 495–8. doi:10.1016/j.jbspin.2007.07.021. PMID 18456538.

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