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Reduced leukocyte steroid sulfatase activity

MedGen UID:: 1841646
•Concept ID:: C5826717
•: Finding

Synonym:	Reduced leukocyte arylsulfatase C activity

HPO:	HP:0034862

Definition

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

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVReduced leukocyte steroid sulfatase activity

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal enzyme concentration or activity
    - Abnormal leukocyte enzyme concentration or activity
      - Reduced leukocyte steroid sulfatase activity

Recent clinical studies

Etiology

A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.

Pham V, Sertori Finoti L, Cassidy MM, Maguire JA, Gagne AL, Waxman EA, French DL, King K, Zhou Z, Gelb MH, Wongkittichote P, Hong X, Schlotawa L, Davidson BL, Ahrens-Nicklas RC
Mol Genet Metab 2024 Feb;141(2):108116. Epub 2023 Dec 21 doi: 10.1016/j.ymgme.2023.108116. PMID: 38161139 Free PMC Article

Dehydroepiandrosterone sulfate directly activates protein kinase C-beta to increase human neutrophil superoxide generation.

Radford DJ, Wang K, McNelis JC, Taylor AE, Hechenberger G, Hofmann J, Chahal H, Arlt W, Lord JM
Mol Endocrinol 2010 Apr;24(4):813-21. Epub 2010 Feb 19 doi: 10.1210/me.2009-0390. PMID: 20172962 Free PMC Article

Testis cancer. Ichthyosis constitutes a significant risk factor.

Lykkesfeldt G, Bennett P, Lykkesfeldt AE, Micic S, Rørth M, Skakkebaek NE, Svenstrup B
Cancer 1991 Feb 1;67(3):730-4. doi: 10.1002/1097-0142(19910201)67:3<730::aid-cncr2820670333>3.0.co;2-t. PMID: 1898710

See all (3)

Diagnosis

Ichthyosis: the skin manifestation of multiple sulfatase deficiency.

Castaño Suárez E, Segurado Rodríguez A, Guerra Tapia A, Simón de las Heras R, López-Ríos F, Coll Rosell MJ
Pediatr Dermatol 1997 Sep-Oct;14(5):369-72. doi: 10.1111/j.1525-1470.1997.tb00984.x. PMID: 9336808

A fluorimetric assay of steroid sulphatase in leukocytes: evidence for two genetically different enzymes with arylsulphatase C activity.

van Diggelen OP, Konstantinidou AE, Bousema MT, Boer M, Bakx T, Jöbsis AC
J Inherit Metab Dis 1989;12(3):273-80. doi: 10.1007/BF01799217. PMID: 2533306

See all (2)

Prognosis

Very High Dehydroepiandrosterone Sulfate (DHEAS) in Serum of an Overweight Female Adolescent Without a Tumor.

Iliev DI, Braun R, Sánchez-Guijo A, Hartmann M, Wudy SA, Heckmann D, Bruchelt G, Rösner A, Grosser G, Geyer J, Binder G
Front Endocrinol (Lausanne) 2020;11:240. Epub 2020 May 6 doi: 10.3389/fendo.2020.00240. PMID: 32435230 Free PMC Article

See all (1)

Clinical prediction guides

Very High Dehydroepiandrosterone Sulfate (DHEAS) in Serum of an Overweight Female Adolescent Without a Tumor.

Inhibition of steroid sulfatase decreases endometriosis in an in vivo murine model.

Colette S, Defrère S, Lousse JC, Van Langendonckt A, Gotteland JP, Loumaye E, Donnez J
Hum Reprod 2011 Jun;26(6):1362-70. Epub 2011 Mar 25 doi: 10.1093/humrep/der079. PMID: 21441545

Testis cancer. Ichthyosis constitutes a significant risk factor.

Various sulfatase activities in leukocytes and cultured skin fibroblasts from heterozygotes for the multiple sulfatase deficiency (mukosulfatidosis).

Eto Y, Tahara T, Tokoro T, Maekawa K
Pediatr Res 1983 Feb;17(2):97-100. doi: 10.1203/00006450-198302000-00003. PMID: 6572356

See all (4)

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Reduced leukocyte steroid sulfatase activity

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

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