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Abnormal iduronate sulfatase concentration

MedGen UID:: 1814355
•Concept ID:: C5676790
•: Finding

HPO:	HP:0034202

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal iduronate sulfatase concentration

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal enzyme concentration or activity
    - Abnormal circulating enzyme concentration or activity
      - Abnormal iduronate sulfatase concentration
        Decreased iduronate sulfatase level
        Increased iduronate sulfatase level

Recent clinical studies

Etiology

Low-scale expression and purification of an active putative iduronate 2-sulfate sulfatase-Like enzyme from Escherichia coli K12.

Morales-Álvarez ED, Rivera-Hoyos CM, Baena-Moncada AM, Landázuri P, Poutou-Piñales RA, Sáenz-Suárez H, Barrera LA, Echeverri-Peña OY
J Microbiol 2013 Apr;51(2):213-21. Epub 2013 Apr 27 doi: 10.1007/s12275-013-2416-2. PMID: 23625223

Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.

Sohn YB, Lee J, Cho SY, Kim SJ, Ko AR, Nam MH, Jin DK
Am J Med Genet A 2013 May;161A(5):1036-43. Epub 2013 Mar 25 doi: 10.1002/ajmg.a.35869. PMID: 23529876

See all (2)

Diagnosis

Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.

Jacques CED, Guerreiro G, Lopes FF, de Souza CFM, Giugliani R, Vargas CR
Cell Biochem Biophys 2023 Sep;81(3):533-542. Epub 2023 Jul 20 doi: 10.1007/s12013-023-01149-w. PMID: 37470932

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.

Chkioua L, Grissa O, Leban N, Gribaa M, Boudabous H, Turkia HB, Ferchichi S, Tebib N, Laradi S
BMC Med Genet 2020 May 24;21(1):111. doi: 10.1186/s12881-020-01051-9. PMID: 32448126 Free PMC Article

See all (2)

Therapy

Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.

Jacques CED, Guerreiro G, Lopes FF, de Souza CFM, Giugliani R, Vargas CR
Cell Biochem Biophys 2023 Sep;81(3):533-542. Epub 2023 Jul 20 doi: 10.1007/s12013-023-01149-w. PMID: 37470932

Multifaceted Approach for Quantification and Enzymatic Activity of Iduronate-2-Sulfatase to Support Developing Gene Therapy for Hunter Syndrome.

Franchi PM, Kulagina N, Ilinskaya A, Hoffpauir B, Qian MG, Sugimoto H
AAPS J 2023 Jun 20;25(4):61. doi: 10.1208/s12248-023-00821-6. PMID: 37340133

Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.

Sohn YB, Lee J, Cho SY, Kim SJ, Ko AR, Nam MH, Jin DK
Am J Med Genet A 2013 May;161A(5):1036-43. Epub 2013 Mar 25 doi: 10.1002/ajmg.a.35869. PMID: 23529876

Plasmatic kinetics of dermatan sulfate during enzyme replacement therapy with iduronate-2-sulfatase in a mucopolysaccharidosis II patient.

Volpi N, Zampini L, Maccari F, Santoro L, Galeotti F, Galeazzi T, Gabrielli O, Coppa GV
Glycoconj J 2013 Oct;30(7):727-32. Epub 2013 Mar 20 doi: 10.1007/s10719-013-9471-0. PMID: 23512580

See all (4)

Clinical prediction guides

Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.

Jacques CED, Guerreiro G, Lopes FF, de Souza CFM, Giugliani R, Vargas CR
Cell Biochem Biophys 2023 Sep;81(3):533-542. Epub 2023 Jul 20 doi: 10.1007/s12013-023-01149-w. PMID: 37470932

Multifaceted Approach for Quantification and Enzymatic Activity of Iduronate-2-Sulfatase to Support Developing Gene Therapy for Hunter Syndrome.

Franchi PM, Kulagina N, Ilinskaya A, Hoffpauir B, Qian MG, Sugimoto H
AAPS J 2023 Jun 20;25(4):61. doi: 10.1208/s12248-023-00821-6. PMID: 37340133

Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.

Sohn YB, Lee J, Cho SY, Kim SJ, Ko AR, Nam MH, Jin DK
Am J Med Genet A 2013 May;161A(5):1036-43. Epub 2013 Mar 25 doi: 10.1002/ajmg.a.35869. PMID: 23529876

Plasmatic kinetics of dermatan sulfate during enzyme replacement therapy with iduronate-2-sulfatase in a mucopolysaccharidosis II patient.

Volpi N, Zampini L, Maccari F, Santoro L, Galeotti F, Galeazzi T, Gabrielli O, Coppa GV
Glycoconj J 2013 Oct;30(7):727-32. Epub 2013 Mar 20 doi: 10.1007/s10719-013-9471-0. PMID: 23512580

See all (4)

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Abnormal iduronate sulfatase concentration

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Clinical prediction guides

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