Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal cord. It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides).

2019年9月19日 · Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances.

Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the brain and spinal cord (central nervous system). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of …

粘多糖贮积症III型（MPS III），也称为Sanfilippo综合征，是一种 进行性疾病 ，主要影响大脑和脊髓（中枢神经系统）。 其特征是神经功能恶化（ 神经变性 ），导致该病的许多特征。

2024年7月19日 · MPS III is characterized by changes in behavior (aggression, hyperactivity), sleep disorders, progressive cognitive changes (including loss of memory and intellectual disability), hearing loss and vision impairment. MPS III affects each child differently and progresses faster in some children than in others.

Mucopolysaccharidosis type III (MPS III) is a genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate.

MPS III 是一种粘多糖病，也称为 Sanfilippo 综合征。 它得名于西尔维斯特·桑菲利波 (Sylvester Sanfilippo) 医生，他是一位美国医生，于 1963 年描述了这种情况。 是什么原因导致这种疾病？ 粘多糖是糖分子链，用于在体内构建结缔组织。 “muco”是指分子的粘稠果冻状稠度。 “poly”的意思是“很多”。 “糖”是糖分子的总称。 身体不断更换使用过的材料并将其分解进行处理。 MPS III 患者缺少一种分解粘多糖硫酸乙酰肝素所必需的酶。 这些物质仍然储存在人体细胞中，造成渐进性 …

2024年1月23日 · Mucopolysaccharidosis type III (MPS III) is a rare genetic condition that causes fatal brain damage. It is also known as Sanfilippo syndrome and is a type of childhood dementia. MPS III is caused by the lack of an enzyme that normally breaks down and recycles a large, complex sugar molecule called heparan sulfate.

2020年3月4日 · 目的：Sanfilippo综合征（粘多糖贮积症Ⅲ型或MPS Ⅲ）是一类罕见的常染色体隐性遗传疾病，由溶酶体酶缺陷导致粘多糖代谢障碍导致，其临床特征为严重智力倒退和行为问题，患儿智力显著受损，常在二十岁前死亡。

MPS III is a mucopolysaccharide disease also known as Sanfilippo syndrome. It takes its name from Dr. Sylvester Sanfilippo, one of the U.S. doctors who described the condition in 1963. What causes this disease? Mucopolysaccharides are chains of sugar molecules used to build connective tissues in the body.