ICNC Abstracts, ICNC 2018

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Clinical and genetic studies on fifteen patients with tyrosine hydroxylase deficiency
Yao Zhang

Last modified: 2018-09-09


Objective To understand the clinical and genetic characteristics of tyrosine hydroxylase deficiency. Methods Fifteen patients (seven boys and eight girls) were collected from 2005 to 2016. The clinical manifestations, laboratory tests, treatment and tyrosine hydroxylase (TH) genes were analyzed. Results fourteen patients had the onset-age from the age of 3 months to 20 months, respectively. They presented with regression from the age of 8 months to 9 years. Ten cases (66.7%) showed dopa-responsive dystonia (DRD). Five cases manifested with infantile parkinsonism with motor delay. Complex heterozygous mutations were found in TH gene of all patients, confirmed the diagnosis. c.646G>A(p.G126S)and c.698G>A(p.R233H)occurred four times. c.605G>A(p.R202H)showed three times. Ten novel mutations were identified. After the treatment by levodopa (2.7~10mg/kg.d), significant improvement was observed in all patients. Six patients (4 with DRD) recovered. Nine cases improved with slightly uncoordinated movements. Conclusion The patients of dopa-responsive dystonia with tyrosine hydroxylase deficiency usually had the onset around the age of one year with both normal intelligence and dystonia. The treatment of levodopa will dramatically improve the symptoms. In this study, all cases were diagnosed by gene analysis and treated successfully.


Tyrosine hydroxylase deficiency; Dystonia, dopa-reactive dystonia; levodopa

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