Tyrosine hydroxylase deficiency in Taiwanese infants.

  title={Tyrosine hydroxylase deficiency in Taiwanese infants.},
  author={Ching-Shiang Chi and H F Lee and Chi-Ren Tsai},
  journal={Pediatric neurology},
  volume={46 2},
We analyzed the clinical manifestations, genetic mutations, treatment responses to L-dopa, and long-term neurologic outcomes in Taiwanese infants with tyrosine hydroxylase deficiency. From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutations on the tyrosine hydroxylase gene. Two patients manifested fetal distress during the perinatal period. Four patients exhibited generalized tremor as their first observed… CONTINUE READING


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