Tyrosine hydroxylase deficiency induced dopa-responsive dystonia:a case report and literature review
10.19845/j.cnki.zfysjjbzz.2023.0162
- VernacularTitle:酪氨酸羟化酶缺乏症致多巴反应性肌张力障碍1例报告和文献复习
- Author:
Xuejuan LIU
1
;
Tong DONG
1
Author Information
1. Gansu Provincial People Hospital,Lanzhou University,Lanzhou 730000,China
- Publication Type:Journal Article
- Keywords:
Tyrosine hydroxylase deficiency;
Dopa-responsive dystonia;
Genes;
Diagnosis
- From:
Journal of Apoplexy and Nervous Diseases
2023;40(8):713-717
- CountryChina
- Language:Chinese
-
Abstract:
Tyrosine hydroxylase deficiency induced dopa-responsive dystonia is a treatable neurometabolic disease,which is relatively rare in clinic. In this paper,we present a case of dopa-responsive dystonia caused by tyrosine hydroxylase deficiency and reviewed relevant literature to investigate the pathogenesis,clinical manifestations,diagnosis and treatment of dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. Finally,we concluded that peripheral blood prolactin may be a biomarker of tyrosine hydroxylase deficiency,Genetic testing in patients with clinically suspected tyrosine hydroxylase deficiency may be the only way to confirm the diagnosis,and early identification of the diagnosis and levodopa treatment may significantly improve the prognosis.
- Full text:202406161032569958酪氨酸羟化酶缺乏症致多巴反应性肌张力障碍1例报告和文献复习.pdf
