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Reduced leukocyte arylsulfatase B activity

MedGen UID:
1842073
Concept ID:
C5826716
Finding
HPO: HP:0034861

Definition

Concentration or activity of an arylsulfatase B as measured in leukocytes is below the limits of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced leukocyte arylsulfatase B activity

Conditions with this feature

Mucopolysaccharidosis type 6
MedGen UID:
44514
Concept ID:
C0026709
Disease or Syndrome
Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

Recent clinical studies

Etiology

Sharma G, Burke J, Bhattacharyya S, Sharma N, Katyal S, Park RL, Tobacman J
Pediatr Pulmonol 2013 Mar;48(3):236-44. Epub 2012 May 1 doi: 10.1002/ppul.22567. PMID: 22550062Free PMC Article
Simonaro CM, Haskins ME, Kunieda T, Evans SM, Visser JW, Schuchman EH
Transplantation 1997 May 27;63(10):1386-93. doi: 10.1097/00007890-199705270-00003. PMID: 9175798

Diagnosis

Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article
Broadhead DM, Kirk JM, Burt AJ, Gupta V, Ellis PM, Besley GT
Clin Genet 1986 Nov;30(5):392-8. doi: 10.1111/j.1399-0004.1986.tb01896.x. PMID: 3100113
Kolodny EH, Mumford RA
Adv Exp Med Biol 1976;68:239-51. doi: 10.1007/978-1-4684-7735-1_16. PMID: 7105

Therapy

Broadhead DM, Kirk JM, Burt AJ, Gupta V, Ellis PM, Besley GT
Clin Genet 1986 Nov;30(5):392-8. doi: 10.1111/j.1399-0004.1986.tb01896.x. PMID: 3100113

Prognosis

Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article

Clinical prediction guides

Simonaro CM, Haskins ME, Kunieda T, Evans SM, Visser JW, Schuchman EH
Transplantation 1997 May 27;63(10):1386-93. doi: 10.1097/00007890-199705270-00003. PMID: 9175798
Broadhead DM, Kirk JM, Burt AJ, Gupta V, Ellis PM, Besley GT
Clin Genet 1986 Nov;30(5):392-8. doi: 10.1111/j.1399-0004.1986.tb01896.x. PMID: 3100113

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