Maroteaux–Lamy syndrome
Oxford Dictionary of Biochemistry:
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Maroteaux-Lamy syndrome
an alternative name for mucopolysaccharidosis VI.
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Maroteaux–Lamy syndrome
| Maroteaux–Lamy syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | E76.2 |
| ICD-9 | 277.5 |
| OMIM | 253200 |
| DiseasesDB | ddb29179 |
| eMedicine | ped/1373 |
| MeSH | D009087 |
Maroteaux–Lamy syndrome (also known as Mucopolysaccharidosis type VI"[1] or Polydystrophic Dwarfism) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB).[2] It is named after Pierre Maroteaux (1926-), a French Physician and his mentor, Maurice Emil Joseph Lamy (1895-1975), a French Physician.[3][4]
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Contents
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History and symptoms
Children with MPS VI, Maroteaux–Lamy syndrome, usually have normal intellectual development but share many of the physical symptoms found in Hurler syndrome. Caused by the deficient enzyme N-acetylgalactosamine 4-sulfatase, Maroteaux–Lamy syndrome has a variable spectrum of severe symptoms. Neurological complications include clouded corneas, deafness, thickening of the dura (the membrane that surrounds and protects the brain and spinal cord), and pain caused by compressed or traumatized nerves and nerve roots.
Signs are revealed early in the affected child's life, with one of the first symptoms often being a significantly prolonged age of learning how to walk.[5] By age 10 children have developed a shortened trunk, crouched stance, and restricted joint movement. In more severe cases, children also develop a protruding abdomen and forward-curving spine. Skeletal changes (particularly in the pelvic region) are progressive and limit movement. Many children also have umbilical hernia or inguinal hernias. Nearly all children have some form of heart disease, usually involving valve dysfunction. An enzyme replacement therapy, galsulfase (Naglazyme), was tested on patients with MPS VI and was successful in that it improved growth and joint movement. An experiment was then carried out to see whether an injection of the missing enzyme into the hips would help the range of motion and pain. Costing $350,000 a year, Naglazyme is one of the world's most expensive drugs.[6]
Further Reading
See also
References
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L (July 2008). "Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene". Mol. Genet. Metab. 94 (3): 305–12. doi:10.1016/j.ymgme.2008.02.012. PMID 18406185. http://linkinghub.elsevier.com/retrieve/pii/S1096-7192(08)00057-7.
- ^ synd/1619 at Who Named It?
- ^ MAROTEAUX P, LEVEQUE B, MARIE J, LAMY M (September 1963). "[A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B.]" (in French). Presse Med 71: 1849–52. PMID 14091597.
- ^ http://www.chicagotribune.com/news/local/breaking/chibrknews-web-wonder-kid-its-keenans-world-for-now-20110414,0,2983797,print.story
- ^ Health Care: The World's Most Expensive Drugs, Matthew Herper, Forbes, Feb. 22, 2010
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