Mucopolysaccharidosis (Subscribe)  

Hurler disease (gargoylism)

mucopolysaccharidosis (MPS) type I (aka: gargoylism)
* autosomal recessive deficiency of X-L iduronidase
* 1 in 10000 births
* prognosis: death in early teens
* dwarfism
* mental retardation
* kyphosis
...

Morquio's Syndrome
mucopolysaccharidosis (MPS) type IV
* autosomal recessive deficiency of N-acetylgalactosamine-6-sulfatase build up of keratin sulfate
* normal intelligence
* platyspondyly ("universal vertebra plana" = hallmark)
...

Objectives
1. Describe the common feature of all the mucopolysaccharidoses
2. Describe the genetic transmission of the mucopolysaccharidoses
3. Describe the organ systems involved in the different phenotypic expressions of the mucopolysaccharidoses
The mucopolysaccharidoses are a family of rare genetic disorders all characterized by...

Mucopolysaccharides consist of glycosaminoglycans attached to a link protein with a hyaluronic acid core. Lysosomal enzymes degrade these macromolecules into smaller components. Heparan sulfate, dermatan sulfate, and keratan sulfate are by-products of an incomplete degradation process. The accumulation of these compounds interferes with cell function. Different forms of the disease were...

Synonyms and related keywords: mucopolysaccharidosis type IV, Morquio syndrome, MS, mucopolysaccharidoses type IVA, OMIM 253000, mucopolysaccharidoses type IVB, OMIM 253010, lysosomal storage disease, MPS IVA, B MPS IVA, MPS IVB12
Contents: Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography
Author: Nancy Braverman, MD, Assistant Professor, McKusick-Nathans Institute...

To the best of our knowledge, the bone scintigraphy findings of a case of Morquio's syndrome have never before been published. We present our case report to add to the knowledge we have of this rare disease.
Scintigraphic Features of Morquio's Syndrome: A Case Report Bjoern Kitzing; Kevin C Allman J Med...