Sanfilippo syndrome (mucopolysaccharidosis type IIIA; MPS IIIA) is an inherited paediatric‐onset neurodegenerative disorder caused by the lysosomal deficiency of sulphamidase with subsequent accumulation of heparan sulphate. The pathological mechanisms responsible for clinical disease are unknown; however, intraneuronal accumulation of aggregation‐prone proteins such as α‐synuclein, phosphorylated tau and amyloid precursor protein suggests inefficient intracellular trafficking and lysosomal degradation.

中文翻译：

---

缺乏α-突触核蛋白的 MPS IIIA 小鼠的早期病程未改变

Sanfilippo 综合征（粘多糖贮积症 IIIA 型；MPS IIIA）是一种遗传性儿科发病的神经退行性疾病，由溶酶体缺乏磺胺酶并随后积累硫酸乙酰肝素引起。导致临床疾病的病理机制尚不清楚；然而，易于聚集的蛋白质（如 α-突触核蛋白、磷酸化 tau 和淀粉样前体蛋白）的神经元内积累表明细胞内运输和溶酶体降解效率低下。