関: Sly disease、Sly syndrome

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the 22nd letter of the Roman alphabet (同)v
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

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/02/07 13:58:23」(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. doi:10.1002/ajmg.1320290307. 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

Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII.

Rowan DJ, Tomatsu S, Grubb JH, Montaño AM, Sly WS.SourceSchool of Medicine, Saint Louis University, St. Louis, MO, USA.
Journal of inherited metabolic disease.J Inherit Metab Dis.2013 Mar;36(2):235-46. doi: 10.1007/s10545-012-9522-x. Epub 2012 Sep 13.
Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases caused by mutations in lysosomal enzymes involved in degradation of glycosaminoglycans (GAGs). Patients with MPS grow poorly and become physically disabled due to systemic bone disease. While many of the major skeletal effects in
PMID 22971960

Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis.

Gort L, Granell MR, Fernández G, Carreto P, Sanchez A, Coll MJ.SourceSecció Errors Congènits del Metabolisme-IBC, Serv. Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Barcelona, Spain lgort@clinic.ub.es
Prenatal diagnosis.Prenat Diagn.2012 Dec;32(12):1139-42. doi: 10.1002/pd.3972. Epub 2012 Sep 18.
OBJECTIVE: Nonimmune hydrops fetalis (NIHF) is defined by the excessive fluid accumulation in more than one foetal compartments and body cavities because of nonimmune reasons. It has been described that 14 lysosomal diseases may be causative of NIHF. The aim of this study was to design a fast protoc
PMID 22991067

Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII.

Huynh HT, Grubb JH, Vogler C, Sly WS.SourceEdward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO 63104, USA.
Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2012 Oct 16;109(42):17022-7. doi: 10.1073/pnas.1214779109. Epub 2012 Oct 1.
Enzyme replacement therapy has been used successfully in many lysosomal storage diseases. However, correction of brain storage has been limited by the inability of infused enzyme to cross the blood-brain barrier (BBB). We recently reported that PerT-GUS, a form of β-glucuronidase (GUS) chemically m
PMID 23027951

Japanese Journal

Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice

戸松俊治,MONTANO Adriana,NISHIOKA Tatsuo,GUTIERREZ Monica,VOGLER Carole,SLY William
日本先天代謝異常学会雑誌 23(1), 172, 2007-10-23
NAID 10019771749

Encapsulation Cell Therapy for Mucopolysaccharidosis Type VII Using Genetically Engineered Immortalized Human Amniotic Epithelial Cells

NAKAMA HIDEYUKI,OHSUGI KEIKO,OTSUKI TAISUKE,DATE ISAO,KOSUGA MOTOMICHI,OKUYAMA TORAYUKI,SAKURAGAWA NORIO
THE TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE 209(1), 23-32, 2006-05-01
NAID 10017418674