词条 | Sly syndrome |
释义 |
| synonyms = β-glucuronidase deficiency, β-glucuronidase deficiency mucopolysaccharidosis, | name = Sly syndrome | image = autorecessive.svg | caption = Sly syndrome has an autosomal recessive pattern of inheritance | | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Sly syndrome, also called mucopolysaccharidosis type VII (MPS 7), 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, an American biochemist who has spent nearly his entire academic career at Saint Louis University.[1][2] Signs and symptomsThe symptoms of Sly syndrome are similar to those of Hurler syndrome (MPS I). The symptoms include:
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. GeneticsThe defective gene responsible for Sly syndrome is located on chromosome 7.[3] Diagnosis{{Empty section|date=May 2017}}ManagementVestronidase alfa-vjbk (Mepsevii) is the only drug approved by U.S. Food and Drug Administration for the treatment of pediatric and adult patients. PrevalenceMPS type VII occurs in less than 1 in 250,000 births.[4] References1. ^{{cite web |url=http://www.slu.edu/x14852.xml |title=slu.edu |accessdate=2007-12-31 |format= |work= |deadurl=yes |archiveurl=https://web.archive.org/web/20070911152518/http://www.slu.edu/x14852.xml |archivedate=2007-09-11 |df= }} 2. ^{{cite journal |vauthors =Sly WS, Quinton BA, McAlister WH, Rimoin DL |title=Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis |journal=J. Pediatr. |volume=82 |issue=2 |pages=249–57 |year=1973 |pmid=4265197 |doi=10.1016/S0022-3476(73)80162-3}} 3. ^{{cite journal |pmid=3376995 |year=1988 |last1=Allanson |first1=JE |last2=Gemmill |first2=RM |last3=Hecht |first3=BK |last4=Johnsen |first4=S |last5=Wenger |first5=DA |title=Deletion mapping of the beta-glucuronidase gene. |volume=29 |issue=3 |pages=517–522 |journal=American Journal of Medical Genetics |doi=10.1002/ajmg.1320290307}} 4. ^National Institute of Neurological Disorders and Stroke > Mucopolysaccharidoses Fact Sheet Last updated May 06, 2010 External links{{Medical resources| DiseasesDB = 8389 | ICD10 = {{ICD10|E|76|2|e|70}} | ICD9 = {{ICD9|277.5}} | ICDO = | OMIM = 253220 | MedlinePlus = | eMedicineSubj = ped | eMedicineTopic = 858 | MeshID = D016538 }}
5 : Proteoglycan metabolism disorders|Autosomal recessive disorders|Syndromes|Rare diseases|Skin conditions resulting from errors in metabolism |
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