WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
the 19th letter of the Roman alphabet (同)s

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
sulfurの化学記号 / {略}South[ern]
『ずるい』,陰険な / 茶目っ気のある,いたずらっぽい

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/06/21 07:25:55」(JST)

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Sly syndrome, also called Mucopolysaccharidosis Type VII or MPS, is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme β-glucuronidase, a lysosomal enzyme. Sly syndrome belongs to a group of disorders known as mucopolysaccharidoses, which are lysosomal storage diseases. In Sly syndrome, the deficiency in β-glucuronidase leads to the accumulation of certain complex carbohydrates (mucopolysaccharides) in many tissues and organs of the body.

It was named after its discoverer William S. Sly (1932-), an American Biochemist, in 1969 who has spent nearly his entire academic career at Saint Louis University. ^[1]^[2]

Genetics[edit]

Sly syndrome has an autosomal recessive pattern of inheritance.

The defective gene responsible for Sly syndrome is located on chromosome 7.^[3]

Symptoms[edit]

The symptoms of Sly syndrome are similar to those of Hurler syndrome (MPS I). The symptoms include:

in the head, neck, and face: coarse (Hurler-like) facies and macrocephaly, frontal prominence, premature closure of sagittal lambdoid sutures, and J-shaped sella turcica
in the eyes: corneal opacity and iris coloboma
in the nose: anteverted nostrils and a depressed nostril bridge
in the mouth and oral areas: prominent alveolar processes and cleft palate
in the thorax: usually pectus carinatum or exacavatum and oar-shaped ribs; also a protruding abdomen and inguinal or umbilical hernia
in the extremities: talipes, an underdeveloped ilium, aseptic necrosis of femoral head, and shortness of tubular bones occurs
in the spine: kyphosis or scoliosis and hook-like deformities in thoracic and lumbar vertebrate
in the bones: dysostosis multiplex

In addition recurrent pulmonary infections occur. Hepatomegaly occurs in the gastrointestinal system. Splenomegaly occurs in the hematopoietic system. Inborn mucopolysaccharide metabolic disorders due to β-glucuronidase deficiency with granular inclusions in granulocytes occurs in the biochemical and metabolic systems. Growth and motor skills are affected, and mental retardation also occurs.

Prevalence[edit]

MPS type VII occurs in less than 1 in 250,000 births.^[4]

Other names[edit]

Mucopolysaccharidosis Type VII is also known as β-glucuronidase deficiency, β-glucuronidase deficiency mucopolysaccharidosis, GUSB deficiency, mucopolysaccharide storage disease VII, MCA, and MR.

References[edit]

^ "slu.edu". Retrieved 2007-12-31.
^ Sly WS, Quinton BA, McAlister WH, Rimoin DL (1973). "Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis". J. Pediatr. 82 (2): 249–57. doi:10.1016/S0022-3476(73)80162-3. PMID 4265197.
^ Allanson, JE; Gemmill, RM; Hecht, BK; Johnsen, S; Wenger, DA (1988). "Deletion mapping of the beta-glucuronidase gene.". American Journal of Medical Genetics 29 (3): 517–522. PMID 3376995.
^ National Institute of Neurological Disorders and Stroke > Mucopolysaccharidoses Fact Sheet Last updated May 06, 2010

External links[edit]

The Matthew Evangelista Foundation Inc. is a charity that is trying to raise money to find treatment for Sly syndrome.
http://www.mpssociety.org/

UpToDate Contents

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1. ムコ多糖症：臨床的特徴および診断 mucopolysaccharidoses clinical features and diagnosis
2. ムコ多糖症：合併症およびマネージメント mucopolysaccharidoses complications and management

English Journal

Carotid intima-media thickness is increased in patients with mucopolysaccharidoses.

Wang RY, Covault KK, Halcrow EM, Gardner AJ, Cao X, Newcomb RL, Dauben RD, Chang AC.SourceDivision of Metabolic Disorders, Pediatric Subspecialty Faculty, CHOC Children's, Orange, CA, USA; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA, USA.
Molecular genetics and metabolism.Mol Genet Metab.2011 Sep 10. [Epub ahead of print]
BACKGROUND: The feasibility of carotid artery intima-media thickness (C-IMT), an established cardiovascular disease marker, as a cardiac risk marker in mucopolysaccharidosis (MPS) patients was explored.OBJECTIVES: To determine if C-IMT is abnormal in MPS versus unaffected controls, and if C-IMT corr
PMID 21963080

Japanese Journal

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteoclasts with renal tubular acidosis and cerebral calcification