Morquio syndrome Totally Explained

Everything about Morquio Syndrome totally explained

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 can't process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms.

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. 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

Large head

Bell shaped chest (ribs flared)

Compression of spinal cord

Enlarged heart

Dwarfism

Complications

Complications that may develop include:

Heart failure and/or problems

Difficulty with vision

Walking problems related to abnormal curvature of the spine

Abnormal neck bones can cause spinal cord damage that can cause severe disease including paralysis if not caught early -- spinal fusion can prevent this

Problems with urination

Coarse facial featuresFurther Information

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