Aug 17, 2022 · MPS 1 is a condition where your body doesn't have enough enzymes to break down sugar molecules (glycosaminoglycans, formerly called mucopolysaccharides). The condition causes skeletal/joint abnormalities, distinct facial characteristics, issues with cognitive development, heart and lung (respiratory) problems and an enlarged liver and spleen.

Oct 31, 2002 · Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been ...

Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disorder characterized by an abnormal build-up of various toxic materials, called glycosaminoglycans (GAGs) in the body's cells. MPS 1 is a spectrum of disease ranging from a mild (attenuated) form, called Scheie, to severe disease, called Hurler syndrome.

黏多糖贮积症Ⅰ型 (mucopolysaccharidosis type Ⅰ，MPS Ⅰ)是一种罕见的常染色体隐性遗传代谢性疾病，临床表现复杂，常累及多个器官，疾病负担重，普遍存在确诊率低、诊断延迟等情况。 酶替代疗法、造血干细胞移植是MPS Ⅰ治疗的主要手段，大量研究数据显示2种疗法均可使MPS Ⅰ患者获益。 就目前而言，临床上对MPS Ⅰ的认识仍然不足，相关研究也较少。 故本文将围绕MPS Ⅰ流行病学特征、基因突变与临床表型、临床表现、诊断及治疗作一综述，旨在加深临床医师 …

MPS I (mucopolysaccharidosis type 1 or Hurler syndrome) is an inherited condition that involves the fourth chromosome. Learn the symptoms, causes, treatment, and life expectancy of this genetic condition.

Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe.

Mucopolysaccharidosis type I is a spectrum of diseases in the mucopolysaccharidosis family. It results in the buildup of glycosaminoglycans (or GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for …

黏多糖贮积症 ( mucopolysaccharidoses，MPS)，是一组罕见的 溶酶体病。 由于溶酶体内酶的缺陷或缺乏，机体分解黏多糖（长链糖分子）障碍，导致这些糖分子在细胞内、血液和结缔组织中沉积，从而产生相应的临床症状。 目前这类疾病可分为黏多糖贮积症I型，Ⅱ型，Ⅲ型，Ⅳ型，Ⅵ型，Ⅶ型，Ⅸ型，共7种类型和数种亚型 [1]。 其中，黏多糖贮积症V型，又称为黏多糖贮积症IS型（Scheie综合征）。 黏多糖贮积症Ⅸ型是由 透明质酸酶 ( hyaluronidase)导致的一种黏多糖贮 …

Apr 24, 2023 · Mucopolysaccharidosis type I (MPS I) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules. These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides).

黏多糖贮积症 I型 (MPS I)是由的溶酶体酶缺乏α（一种 遗传代谢性疾病 -iduronidase），这消除 艾杜糖醛酸 从的非还原性末端的硫酸皮肤素和 硫酸乙酰肝素 的逐步过程中的分解代谢的葡萄 糖胺聚糖 ( GAG)。 未代谢的GAG片段的积累会导致一系列继发的病理生理事件，从而导致多系统临床表现，包括粗相，角膜混浊，身材矮小， 瓣膜性心脏病，关节挛缩，肝脾肿大，气道阻塞， 限制性肺病，骨骼疾病和认知障碍。