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J Child Neurol. 2011 Feb;26(2):179-87. doi: 10.1177/0883073810377014. Epub 2010 Sep 7.

Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.

Author information

  • 1Department of Paediatrics, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR, China. yw1221@ha.org.hk

Erratum in

  • J Child Neurol. 2012 Jun;27(6):829-31.


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.

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