NEU1 缺陷导致糖苷酸贮积症
中文名称
通路描述
糖苷酸酶在去除末端唾液酸残基降解糖共轭物的过程中起重要作用。唾液酸酶 1（NEU1）的缺陷导致糖苷酸贮积症，这是一种溶酶体贮积病，其特征是唾液酸化糖肽和寡糖的溶酶体内储存，以及 N-乙酰神经氨酸酸（Neu5Ac）共价连接（'bound'）糖共轭物的积累和排泄（Lowden & O'Brien 1979）。糖苷酸贮积症与糖苷尿症不同，后者表现为游离 Neu5Ac 的储存和排泄。糖苷酸贮积症分为 I 型和 II 型。I 型是较轻的形式，也称为“正常体型”型或樱桃红点 - 肌阵挛综合征。II 型是更严重的形式，发病更早，也称为“畸形”型。
英文描述
Defective NEU1 causes sialidosis Sialidases have important roles in the degradation of glycoconjugates by removing terminal sialic acid residues.
Defects in sialidase 1 (NEU1) cause sialidosis, a lysosomal storage disease characterised by the progressive lysosomal storage of sialidated glycopeptides and oligosaccharides and the accumulation and excretion of N-acetylneuraminic acid (Neu5Ac) covalently-linked ('bound') glycoconjugates (Lowden & O'Brien 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' Neu5Ac. Sialidosis manifests into types I and II forms. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type.
Defects in sialidase 1 (NEU1) cause sialidosis, a lysosomal storage disease characterised by the progressive lysosomal storage of sialidated glycopeptides and oligosaccharides and the accumulation and excretion of N-acetylneuraminic acid (Neu5Ac) covalently-linked ('bound') glycoconjugates (Lowden & O'Brien 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' Neu5Ac. Sialidosis manifests into types I and II forms. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type.
所含基因
2 个基因