Morquio syndrome

This article needs additional citations for verification. Please help improve this article by adding reliable references. Unsourced material may be challenged and removed. (February 2008)

Morquio syndrome
Classification and external resources
ICD-10	E76.2
ICD-9	277.5
OMIM	253000 253010
DiseasesDB	30807 30806
MedlinePlus	001206
eMedicine	ped/1477
MeSH	D009085

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.^[1]:544 It is a rare type of 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.^[2]

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.

The syndrome is estimated to occur in 1 of every 200,000 births. Symptoms usually are noticed between ages 1 and 3. A family history of the syndrome raises one's risk for the condition.

History

The condition was first described, simultaneously and independently, in 1929, by Luis Morquio in Montevideo, Uruguay, by James Frederick Brailsford in Birmingham, England.^[3][4][5]

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 reports his observations in French.

Symptoms

X-ray of a patient with Morquio syndrome

The following symptoms are associated with Morquio's syndrome:

• Abnormal heart development
• Abnormal skeletal development
• Hyper mobile 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
• Difficulty breathing

See also

• Hunter syndrome
• Hurler syndrome

References

External links

• Dwarf Advocacy Association
• National MPS Society
• International Morquio Organization
• Hide & Seek Foundation for Lysosomal Disease Research
• The BioMarin Morquio A (MPS IVA) Program

This disease article is a stub. You can help Wikipedia by expanding it. v • d • e