Maroteaux–Lamy syndrome

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]) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB).[2] It is named after Pierre Maroteaux and Maurice Lamy.[3][4]

Contents

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]

People with Maroteaux–Lamy syndrome

Perhaps the best known person living with Maroteaux-Lamy syndrome is YouTube sensation Keenan Cahill.

Further Reading

http://www.maroteaux-lamy.com

See also

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ 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. 
  3. ^ synd/1619 at Who Named It?
  4. ^ 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. 
  5. ^ http://www.chicagotribune.com/news/local/breaking/chibrknews-web-wonder-kid-its-keenans-world-for-now-20110414,0,2983797,print.story
  6. ^ Health Care: The World's Most Expensive Drugs, Matthew Herper, Forbes, Feb. 22, 2010



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  • Maroteaux-Lamy syndrome — A form of mucopolysaccharidosis with onset before age three, Maroteaux Lamy syndrome is characterized inability to metabolize dermatin sulfate. This leads to abnormal accumulation of dermatin sulfate, mostly in the peripheral tissues. The result… …   Medical dictionary

  • Maroteaux-Lamy syndrome — ▪ pathology also called  Mucopolysaccharidosis Vi,         uncommon hereditary metabolic disease characterized by dwarfism, hearing loss, and progressive skeletal deformity. Onset of the disease is usually in early childhood, with some coarsening …   Universalium

  • Maroteaux-Lamy syndrome — Mucopolysaccharidosis type VI; deficiency of the lysosomal enzyme arylsulphatase B; resembles Hurler s disease in some respects …   Dictionary of molecular biology

  • síndrome de Maroteaux-Lamy — Eng. Maroteaux Lamy Syndrome Síndrome caracterizado a nivel ocular por tortuosidad de las venas de la retina, normalidad en el ERG y cambios corneales. Mucopolisacaridosis tipo VI …   Diccionario de oftalmología

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Lamy — Maurice, French physician, 1895–1975. See Maroteaux L. syndrome …   Medical dictionary

  • Maroteaux — Pierre, French medical geneticist, *1926. See M. Lamy syndrome …   Medical dictionary

  • Liste der Syndrome — Diese Seite listet in alphabetischer Reihenfolge und ohne Anspruch auf Vollständigkeit Syndrome und Komplexe aus unterschiedlichen medizinischen Fachgebieten auf. Bitte nur Verweise auf den tatsächlichen Titel des Beitrags und keine… …   Deutsch Wikipedia

  • Hunter syndrome — Classification and external resources ICD 10 E76.1 ICD 9 277.5 …   Wikipedia

  • Hurler syndrome — Classification and external resources ICD 10 E76.0 ICD 9 277.5 …   Wikipedia

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