1. Expanding Phenotype and Clinical Analysis of Tyrosine Hydroxylase Deficiency.
- Author
-
Wai-lan Yeung, Virginia C. N. Wong, Kwok-yin Chan, Joannie Hui, Cheuk-wing Fung, Eric Yau, Chun-hung Ko, Ching-wan Lam, Mak, Chloe M., Siu, Simon, and Low, Louis
- Subjects
PHENOTYPES ,HEPATIC encephalopathy ,PARKINSONIAN disorders ,MUSCLE diseases ,HYPERPROLACTINEMIA ,SELEGILINE ,CEREBROSPINAL fluid ,HOMOVANILLIC acid ,THERAPEUTICS - Abstract
This study included 12 Chinese patients with a wide spectrum of phenotypes of tyrosine hydroxylase deficiency. Seven females and 5 males, aged 2.2 to 41 years, had phenotypes ranging from severe type with onset at infancy to mild type with onset after 3 years of age. Patients with the severe type had encephalopathy with poor treatment response or infantile parkinsonism with motor delay. Patients with the less common mild type had dopa-responsive dystonia or a newly recognized predominant symptom of myopathy. Female siblings had more severe phenotypes. The phenotype and treatment outcomes were strongly related to a homovanillic acid level and homovanillic acid/5-hydroxyindolacetic acid ratio of less than 1 in the cerebrospinal fluid. Hyperprolactinemia was found in 50% of the severe cases. Levodopa was the mainstay of treatment, and early addition of selegiline resulted in a remarkable response in some patients. Treatment response for mild-type patients is universally good even with a treatment delay of 10 years after onset of neurological symptoms. [ABSTRACT FROM AUTHOR]
- Published
- 2011
- Full Text
- View/download PDF