mucopolysaccharidosis VI

ムコ多糖症VI型

関

Maroteaux-Lamy syndrome

WordNet

1. the 22nd letter of the Roman alphabet (同)v
2. any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues

PrepTutorEJDIC

1. vanadium の化学記号
2. Virgin Islands

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/09/18 00:47:27」(JST)

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Maroteaux–Lamy syndrome
Classification and external resources
Specialty	endocrinology
ICD-10	E76.2
ICD-9-CM	277.5
OMIM	253200
DiseasesDB	ddb29179
eMedicine	ped/1373
MeSH	D009087

Maroteaux–Lamy syndrome (also known as mucopolysaccharidosis type VI, MPS VI, or polydystrophic dwarfism) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB). It is named after Pierre Maroteaux (1926-) and his mentor Maurice Emil Joseph Lamy (1895-1975), both French physicians.

History and symptoms

Children with 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. 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 Maroteaux–Lamy syndrome 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. At a cost of $365,000 a year, Naglazyme is one of the world's most expensive drugs.

See also

• Morquio's disease
• List of cutaneous conditions

References

External links

• Maroteaux-lamy.com

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. ムコ多糖症の臨床的特徴および診断 clinical features and diagnosis of the mucopolysaccharidoses
• 2. ムコ多糖症の合併症およびマネージメント complications and management of the mucopolysaccharidoses
• 3. ベックウィズ・ヴィーデマン症候群 beckwith wiedemann syndrome

English Journal

• Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).

• Golda A, Jurecka A, Tylki-Szymanska A.SourceDepartment of Cardiology, Congenital Heart Diseases and Electrotherapy, Silesian Center for Heart Diseases, Zabrze, Poland.
• International journal of cardiology.Int J Cardiol.2012 Jun 28;158(1):6-11. Epub 2011 Jul 6.
• The aim of the article is to gather and summarize the published data about the incidence, course of illness, treatment possibilities and complications of cardiovascular disorders in patients with mucopolysaccharidosis type VI (MPS VI) also known as Maroteaux-Lamy syndrome. MPS VI is a lysosomal stor
• PMID 21737154

• Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient.

• Kayserili H, Kantaputra PN.SourceMedical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
• American journal of medical genetics. Part A.Am J Med Genet A.2012 Jun 8. doi: 10.1002/ajmg.a.35420. [Epub ahead of print]
• PMID 22684871

Japanese Journal

• Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study

• Intractable & Rare Diseases Research 6(3), 183-190, 2017
• NAID 130006078832

• Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study

• Intractable & Rare Diseases Research, 2017
• NAID 130005987499

• 小児耳鼻咽喉科領域の遺伝性疾患"ムコ多糖症"の診断・治療に関する最近の進歩

• 小児耳鼻咽喉科 36(3), 282-285, 2015
• NAID 130005142741

Related Links

• Mucopolysaccharidosis type VI - Genetics Home Reference

Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities ...

• Mucopolysaccharidosis VI. - National Center for Biotechnology ...

1. Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. Mucopolysaccharidosis VI. Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with ...

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リンク元	「マロトー・ラミー症候群」「ムコ多糖症VI型」「ムコ多糖症VI」
拡張検索	「mucopolysaccharidosis VII」
関連記事	「vi」「V」「mucopolysaccharidosis」

「マロトー・ラミー症候群」

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英

Maroteaux-Lamy syndrome

同

ムコ多糖症VI mucopolysaccharidosis VI MPS VI, ムコ多糖症VI型

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マロトー・ラミー症候群 : 71 件
マロト・ラミー症候群 : 19 件

「ムコ多糖症VI型」

　　[★]

英

mucopolysaccharidosis VI, mucopolysaccharidosis type VI, MPS VI

同

マロトー・ラミー症候群 マロトー-ラミー症候群 Maroteaux-Lamy syndrome

「ムコ多糖症VI」

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英

mucopolysaccharidosis VI, MPS VI

関

マロトー・ラミー症候群

「mucopolysaccharidosis VII」

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ムコ多糖症VII型

関

Sly disease、Sly syndrome

「vi」

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• 初速度 initial velocity

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　　[★] ムコ多糖症 MPS