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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.
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]
iduronate 2-sulfatase EC 3.1.6.13 (IDS), a lysosomal enzyme that hydrolyzes the 2-sulfate groups from iduronic acids in dermatan sulfate and heparan sulfate; N-acetylgalactosamine-6-sulfatase EC 3.1.6.4, which hydrolyzes the 6-sulfate groups of the N-acetyl-D-galactosamine of chondroitin sulfate and D-galactose 6-sulfate units of keratan sulfate;
76768 Ensembl ENSG00000163283 ENSMUSG00000079440 UniProt P05187 F8VPQ6 RefSeq (mRNA) NM_001632 NM_001081082 RefSeq (protein) NP_001623 NP_001074551 Location (UCSC) Chr 2: 232.38 – 232.38 Mb Chr 1: 87.03 – 87.03 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Alkaline phosphatase, placental type also known as placental alkaline phosphatase (PLAP) is an allosteric enzyme that in ...
Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). [2] [3] The lack of this enzyme causes heparan sulfate and dermatan sulfate to accumulate in all body tissues. [4] Hunter syndrome is the only MPS syndrome to exhibit X-linked recessive inheritance. [4] The symptoms of Hunter syndrome are comparable ...
A placental disease is any disease, disorder, or pathology of the placenta. [ 1 ] [ 2 ] Ischemic placental disease leads to the attachment of the placenta to the uterine wall to become under-perfused, causing uteroplacental ischemia.
MPS II, Hunter syndrome or iduronate sulfatase deficiency, is caused by lack of the enzyme iduronate sulfatase. Hunter syndrome has two clinical subtypes and (since it shows X-linked recessive inheritance) is the only one of the mucopolysaccharidoses in which the mother alone can pass the defective gene to a son.