mucopolysaccharidosis


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 resulting various defects of bone, cartilage, connective tissue, and other organs.
- type IH m. SYN: Hurler syndrome.
- type I H/S m. SYN: Hurler-Scheie syndrome.
- type II m. SYN: Hunter syndrome.
- type III m. SYN: Sanfilippo syndrome.
- type IS m. SYN: Scheie syndrome.
- type IVA, B m. SYN: Morquio syndrome.
- type V m. former designation for Scheie syndrome.
- type VI m. SYN: Maroteaux-Lamy syndrome.
- type VII m. 1. SYN: Sly syndrome. 2. SYN: Di Ferrante syndrome.

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mu·co·poly·sac·cha·ri·do·sis -.sak-ə-rī-'dō-səs n, pl -do·ses -.sēz any of a group of genetically determined disorders (as Hunter's syndrome and Hurler's syndrome) of glycosaminoglycan metabolism that are characterized by the accumulation of glycosaminoglycans in the tissues and their excretion in the urine called also gargoylism, lipochondrodystrophy

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n.
any one of a group of several rare genetic diseases that are inborn error of metabolism in which the storage of complex carbohydrates is disordered. The two most common are Hunter's syndrome and Hurler's syndrome.

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mu·co·poly·sac·cha·ri·do·sis (mu″ko-pol″e-sak″ə-ri-doґsis) pl. mucopolysaccharidoґses. Any of a group of lysosomal storage diseases resulting from defects in degradation of the glycosaminoglycans dermatan sulfate, heparan sulfate, keratan sulfate, chondroitin sulfate or a combination of them, which are then excreted in the urine and accumulate in tissues, affecting the bony skeleton, joints, liver, spleen, eyes, ears, skin, teeth, and the cardiovascular, respiratory, and central nervous systems. The prototype for mucopolysaccharidosis is Hurler syndrome (q.v.).

Medical dictionary. 2011.

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 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)… …   Wikipedia

  • 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