Mucopolysaccharidosis VI


Mucopolysaccharidosis VI

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB =
ICD10 = ICD10|E|76|2|e|70
ICD9 = ICD9|277.5
ICDO =
OMIM = 253200
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 1373
MeshID = D009087

Mucopolysaccharidosis VI (or Maroteaux-Lamy disease) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB).cite journal |author=Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L |title=Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene |journal=Mol. Genet. Metab. |volume=94 |issue=3 |pages=305–12 |year=2008 |month=July |pmid=18406185 |doi=10.1016/j.ymgme.2008.02.012 |url=http://linkinghub.elsevier.com/retrieve/pii/S1096-7192(08)00057-7]

Eponym

It is named for Pierre Maroteaux and Maurice Lamy. [WhoNamedIt|synd|1619] cite journal |author=MAROTEAUX P, LEVEQUE B, MARIE J, LAMY M |title= [A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B.] |language=French |journal=Presse Med |volume=71 |issue= |pages=1849–52 |year=1963 |month=September |pmid=14091597 |doi= |url=]

References


Wikimedia Foundation. 2010.

Look at other dictionaries:

  • mucopolysaccharidosis — mucopolysaccharidosis. См. мукополисахаридозы. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Mucopolysaccharidosis — MPS I redirects here. For zhuyin or bopomofo, a phonetic system for romanizing Chinese, also known as Mandarin Phonetic Symbols I, see Bopomofo. Mucopolysaccharidosis Classification and external resources ICD 10 E76 ICD 9 …   Wikipedia

  • mucopolysaccharidosis — Any of a group of lysosomal storage diseases that have in common a disorder in metabolism of mucopolysaccharides, as evidenced by excretion of various mucopolysaccharides in urine and infiltration of these substances into connective tissue, with… …   Medical dictionary

  • mucopolysaccharidosis — (= mucopolysaccharidoses (plural) ) Inherited diseases in humans resulting from inability to break down glycosaminoglycans. Hunter syndrome and Hurler s disease, for example, result from defects in lysosomal enzymes needed to break down sulphated …   Dictionary of molecular biology

  • mucopolysaccharidosis — noun Any of a group of metabolic disorders caused by the absence or malfunction of lysosomal enzymes needed to break down glycosaminoglycans …   Wiktionary

  • mucopolysaccharidosis I — (MPS I) originally, Hurler syndrome; the term now encompasses any of the forms characterized by deficiency of L iduronidase and excretion in the urine of dermatan sulfate and heparan sulfate …   Medical dictionary

  • mucopolysaccharidosis IH — (MPS I H) Hurler syndrome …   Medical dictionary

  • mucopolysaccharidosis IH/S — (MPS I H/S) Hurler Scheie syndrome …   Medical dictionary

  • mucopolysaccharidosis IS — (MPS I S) Scheie syndrome …   Medical dictionary

  • mucopolysaccharidosis II — (MPS II) Hunter syndrome …   Medical dictionary