Phenotypic, Genotypic Characteristics, and Treatment Strategies of Pediatric Tyrosine Hydroxylase Deficiency: A Single‐Center Retrospective Analysis of 51 Cases
This study is the largest retrospective analysis of pediatric THD patients from a single-ethnicity cohort, summarizing the clinical and genotypic characteristics. Variant type-particularly R233H/nonsense versus R233H/missense significantly influences dose requirements, underscoring the value of genotype-guided, dynamic levodopa titration to optimize long-term outcomes.
Authors
- Qinghe Xing (ORCID: https://orcid.org/0000-0003-1780-4761)
- Shuizhen Zhou (ORCID: https://orcid.org/0000-0001-5483-9205)
- Ye Cheng (ORCID: https://orcid.org/0000-0002-7380-8233)
- Linmei Zhang (ORCID: https://orcid.org/0000-0003-4332-8578)
- Yanling Chai (ORCID: https://orcid.org/0009-0003-2437-8358)
- Wenhui Li (ORCID: https://orcid.org/0000-0002-8533-0572)
- Yan Zhang (ORCID: https://orcid.org/0000-0001-9913-6490)
- Yi Wang (ORCID: https://orcid.org/0009-0000-2861-9831)
- Caimei Lin
- Tingting Ban (ORCID: https://orcid.org/0000-0002-4520-5056)
Institutions
- Children's Hospital of Fudan University (CN)
- Children’s Hospital of Fudan University Xiamen Branch (CN)
Publication Details
- Journal
- Movement Disorders Clinical Practice
- Published
- 2025-10-22
- DOI
- https://doi.org/10.1002/mdc3.70371
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00