Morquio syndrome: Difference between revisions
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It involves accumulation of [[keratan sulfate]].<ref name="pmid18456538">{{cite journal |author=Prat C, Lemaire O, Bret J, Zabraniecki L, Fournié B |title=Morquio syndrome: Diagnosis in an adult |journal=Joint Bone Spine |volume= |issue= |pages= |year=2008 |month=May |pmid=18456538 |doi=10.1016/j.jbspin.2007.07.021 |url=http://linkinghub.elsevier.com/retrieve/pii/S1297-319X(08)00094-8}}</ref> |
It involves accumulation of [[keratan sulfate]].<ref name="pmid18456538">{{cite journal |author=Prat C, Lemaire O, Bret J, Zabraniecki L, Fournié B |title=Morquio syndrome: Diagnosis in an adult |journal=Joint Bone Spine |volume= |issue= |pages= |year=2008 |month=May |pmid=18456538 |doi=10.1016/j.jbspin.2007.07.021 |url=http://linkinghub.elsevier.com/retrieve/pii/S1297-319X(08)00094-8}}</ref> |
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Reece. |
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Reece lived but they found out that it wasnt morquio syndrome. |
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==Types== |
==Types== |
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Two forms are recognized, type A and type B. |
Two forms are recognized, type A and type B. |
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Revision as of 15:05, 13 February 2009
 | This article needs additional citations for verification. (February 2008) |
| Morquio syndrome | |
|---|---|
| Specialty | Endocrinology  |
Morquio's syndrome (referred to as mucopolysaccharidosis IV or Morquio's) is an autosomal recessive mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited. It is a relatively rare dwarfism with serious consequences. When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms.
It involves accumulation of keratan sulfate.[1] Reece.
Types
Two forms are recognized, type A and type B.
- Type A is a deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase.
- Type B is a deficiency of the enzyme beta-galactosidase.
History
The condition was first described, simultaneously and independently, in 1929, by Luis Morquio in Montevideo, Uruguay, and by James Frederick Brailsford in Birmingham, England.[2][3][4]
They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in 4 siblings in a family of Swedish extraction and reported his observations in French.
Symptoms
The following symptoms are associated with Morquio's syndrome:
- Abnormal heart development
- Abnormal skeletal development
- Hypermobile joints
- Large fingers
- Knock-knees
- Widely spaced teeth
- Bell shaped chest (ribs flared)
- Compression of spinal cord
- Enlarged heart
- Dwarfism
Complications
Complications that may develop include:[citation needed]
- Heart failure and/or problems
- Difficulty with vision
- Walking problems related to abnormal curvature of the spine
References
- ^ Prat C, Lemaire O, Bret J, Zabraniecki L, Fournié B (2008). "Morquio syndrome: Diagnosis in an adult". Joint Bone Spine. doi:10.1016/j.jbspin.2007.07.021. PMID 18456538.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ synd/2108 at Who Named It?
- ^ L. Morquio. Sur une forme de dystrophie osseuse familiale. Archives de médecine des enfants, Paris, 1929, 32: 129-135.
- ^ J. F. Brailsford. Chondro-osteo-dystrophy. Roentgenopgraphic & clinical features of a child with dislocation of vertebrae. The American Journal of Surgery, New York, 1929, 7: 404-410.
External links
- National MPS Society
- International Morquio Organization
- Hide & Seek Foundation for Lysosomal Disease Research
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