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X-linked ichthyosis (abbreviated XLI) is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. [2] XLI manifests with dry, scaly skin [3] and is due to deletions [4] [5] or mutations [6] in the STS gene.
A congenital deficiency in the enzyme is associated with X-linked ichthyosis, a scaly-skin disease affecting roughly 1 in every 2,000 to 6,000 males. [7] [8] The excessive skin scaling and hyperkeratosis is caused by a lack of breakdown and thus accumulation of cholesterol sulfate, a steroid that stabilizes cell membranes and adds cohesion, in the outer layers of the skin.
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Glucuronosyltransferase – steroid metabolism [6] Glucuronidase (β-glucuronidase) – steroid synthesis [7] Steroid sulfotransferase (SULT1A1, 1E1, 2A1, 2B1a, 2B1b) – steroid metabolism, neurosteroid synthesis [8] Steroid sulfatase – steroid synthesis, neurosteroid metabolism [8] Others Aromatase (estrogen synthetase) – estrogen synthesis
Sulfatases are found in lower and higher organisms. In higher organisms they are found in intracellular and extracellular spaces. Steroid sulfatase is distributed in a wide range of tissues throughout the body, enabling sulfated steroids synthesized in the adrenals and gonads to be desulfated following distribution through the circulation system.
The result is a disease called multiple sulfatase deficiency (MSD), in which the accumulation of glycosaminoglycans or sulfolipids can cause early infant death. [ 10 ] [ 11 ] [ 12 ] This disease can be further differentiated into neonatal, late infantile, and juvenile, with neonatal being the most severe. [ 13 ]
Multiple sulfatase deficiency (MSD), also known as Austin disease, [1] or mucosulfatidosis, [1] is a very rare autosomal recessive [2] lysosomal storage disease [3] caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases. [4]: 502 [5] It is similar to mucopolysaccharidosis. [6]
Sulfatase-modifying factor 1 is an enzyme that in humans is encoded by the SUMF1 gene. [ 5 ] [ 6 ] [ 7 ] Sulfatases catalyze the hydrolysis of sulfate esters such as glycosaminoglycans , sulfolipids , and steroid sulfates .