Scholarlink

Background <p>Sepiapterin reductase deficiency (SRD) is a rare disorder characterized by motor and cognitive symptoms, where early diagnosis and treatment can significantly improve patient outcomes.</p> Methods <p>We performed genetic analysis, functional studies including Western blot and immunocytochemistry, and urinary sepiapterin measurements in a Chinese patient presenting with levodopa-responsive dystonia and parkinsonism.</p> Results <p>We identified a novel homozygous mutation (c.380&#xa0;A &gt; T, p.N127I) in the <i>SPR</i> gene. Functional studies demonstrated reduced expression of the mutant protein while maintaining normal subcellular localization, confirming its pathogenicity. Additionally, we detected elevated urinary sepiapterin levels in this patient, who represents the oldest documented case receiving levodopa treatment.</p> Conclusions <p>This study not only expands the genetic spectrum of SRD but also validates the utility of urinary sepiapterin as a reliable, non-invasive diagnostic biomarker, even in older treated patients.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Novel SPR mutation in first Chinese patient with sepiapterin reductase deficiency: urinary biomarker validation in oldest treated case

  • 期刊论文

  • 发表日期：

    2025年5月1日

查看全文
  • Xiaosheng Zheng,
  • Chenxin Ying,
  • Fei Xie,
  • Zhidong Cen,
  • Wei Luo

摘要

Background

Sepiapterin reductase deficiency (SRD) is a rare disorder characterized by motor and cognitive symptoms, where early diagnosis and treatment can significantly improve patient outcomes.

Methods

We performed genetic analysis, functional studies including Western blot and immunocytochemistry, and urinary sepiapterin measurements in a Chinese patient presenting with levodopa-responsive dystonia and parkinsonism.

Results

We identified a novel homozygous mutation (c.380 A > T, p.N127I) in the SPR gene. Functional studies demonstrated reduced expression of the mutant protein while maintaining normal subcellular localization, confirming its pathogenicity. Additionally, we detected elevated urinary sepiapterin levels in this patient, who represents the oldest documented case receiving levodopa treatment.

Conclusions

This study not only expands the genetic spectrum of SRD but also validates the utility of urinary sepiapterin as a reliable, non-invasive diagnostic biomarker, even in older treated patients.