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Genetics Home Reference: your guide to understanding genetic conditions
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Mucopolysaccharidosis type IV

Reviewed July 2010

What is mucopolysaccharidosis type IV?

Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals.

The first signs and symptoms of MPS IV usually become apparent during early childhood. Affected individuals develop various skeletal abnormalities, including short stature, knock knees, and abnormalities of the ribs, chest, spine, hips, and wrists. People with MPS IV often have joints that are loose and very flexible (hypermobile), but they may also have restricted movement in certain joints. A characteristic feature of this condition is underdevelopment (hypoplasia) of a peg-like bone in the neck called the odontoid process. The odontoid process helps stabilize the spinal bones in the neck (cervical vertebrae). Odontoid hypoplasia can lead to misalignment of the cervical vertebrae, which may compress and damage the spinal cord, resulting in paralysis or death.

In people with MPS IV, the clear covering of the eye (cornea) typically becomes cloudy, which can cause vision loss. Some affected individuals have recurrent ear infections and hearing loss. The airway may become narrow in some people with MPS IV, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). Other common features of this condition include mildly "coarse" facial features, thin tooth enamel, multiple cavities, heart valve abnormalities, a mildly enlarged liver (hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Unlike some other types of mucopolysaccharidosis, MPS IV does not affect intelligence.

The life expectancy of individuals with MPS IV depends on the severity of symptoms. Severely affected individuals may survive only until late childhood or adolescence. Those with milder forms of the disorder usually live into adulthood, although their life expectancy may be reduced. Spinal cord compression and airway obstruction are major causes of death in people with MPS IV.

How common is mucopolysaccharidosis type IV?

The exact prevalence of MPS IV is unknown, although it is estimated to occur in 1 in 200,000 to 300,000 individuals.

What genes are related to mucopolysaccharidosis type IV?

Mutations in the GALNS and GLB1 genes cause MPS IV. These genes provide instructions for producing enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. When MPS IV is caused by mutations in the GALNS gene it is called MPS IV type A (MPS IVA), and when it is caused by mutations in the GLB1 gene it is called MPS IV type B (MPS IVB). In general, the two types of MPS IV cannot be distinguished by their signs and symptoms.

Mutations in the GALNS and GLB1 genes reduce or completely eliminate the activity of the enzymes produced from these genes. Without these enzymes, GAGs accumulate within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that break down and recycle different types of molecules. Conditions such as MPS IV that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. In MPS IV, GAGs accumulate to toxic levels in many tissues and organs, particularly in the bones. The accumulation of GAGs causes the bone deformities in this disorder. Researchers believe that the buildup of GAGs may also cause the features of MPS IV by interfering with the functions of other proteins inside lysosomes and disrupting the movement of molecules inside the cell.

Related Gene(s)

Changes in these genes are associated with mucopolysaccharidosis type IV.

  • GALNS
  • GLB1

How do people inherit mucopolysaccharidosis type IV?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of mucopolysaccharidosis type IV?

These resources address the diagnosis or management of mucopolysaccharidosis type IV and may include treatment providers.

  • Genetic Testing Registry: Morquio syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0026707)
  • Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-A (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0086651)
  • Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-B (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0086652)
  • MedlinePlus Encyclopedia: Morquio syndrome (http://www.nlm.nih.gov/medlineplus/ency/article/001206.htm)

You might also find information on the diagnosis or management of mucopolysaccharidosis type IV in Educational resources (http://www.ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about mucopolysaccharidosis type IV?

You may find the following resources about mucopolysaccharidosis type IV helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for mucopolysaccharidosis type IV?

  • Morquio-Brailsford disease
  • Morquio Disease
  • Morquio's Disease
  • Morquio's Syndrome
  • Morquio Syndrome
  • MPS IV
  • mucopolysaccharidosis (MPS) IV (A, B)

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about mucopolysaccharidosis type IV?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding mucopolysaccharidosis type IV?

apnea ; autosomal ; autosomal recessive ; breakdown ; cell ; compression ; cornea ; enamel ; gene ; heart valve ; hernia ; hypoplasia ; inguinal ; inherited ; obstruction ; prevalence ; recessive ; respiratory ; short stature ; stature ; syndrome ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Montaño AM, Sukegawa K, Kato Z, Carrozzo R, Di Natale P, Christensen E, Orii KO, Orii T, Kondo N, Tomatsu S. Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. J Inherit Metab Dis. 2007 Oct;30(5):758-67. Epub 2007 Sep 17. (http://www.ncbi.nlm.nih.gov/pubmed/17876718?dopt=Abstract)
  • Montaño AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. 2007 Apr;30(2):165-74. Epub 2007 Mar 8. (http://www.ncbi.nlm.nih.gov/pubmed/17347914?dopt=Abstract)
  • Santamaria R, Chabás A, Callahan JW, Grinberg D, Vilageliu L. Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. J Lipid Res. 2007 Oct;48(10):2275-82. Epub 2007 Jul 30. (http://www.ncbi.nlm.nih.gov/pubmed/17664528?dopt=Abstract)
  • Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. Hum Mutat. 2006 Oct;27(10):1060. (http://www.ncbi.nlm.nih.gov/pubmed/16941474?dopt=Abstract)
  • Tomatsu S, Montaño AM, Lopez P, Trandafirescu G, Gutierrez MA, Oikawa H, Nishioka T, Vieira MB, Orii T, Noguchi A. Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. Mol Genet Metab. 2006 Sep-Oct;89(1-2):139-49. Epub 2006 Jul 11. (http://www.ncbi.nlm.nih.gov/pubmed/16837223?dopt=Abstract)
  • Tomatsu S, Montaño AM, Nishioka T, Gutierrez MA, Peña OM, Tranda Firescu GG, Lopez P, Yamaguchi S, Noguchi A, Orii T. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat. 2005 Dec;26(6):500-12. (http://www.ncbi.nlm.nih.gov/pubmed/16287098?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2010
Published: July 28, 2014