Background: Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder.
Case Characteristics: An Indian family with the disorder.
Observations: Phenotypic variation, elevated serum prolactin, genetic confirmation, and partial treatment-responsiveness.
Message: Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis.
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| http://dx.doi.org/10.1007/s13312-017-1055-9 | DOI Listing |
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