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CASE REPORTS
JOURNAL ARTICLE
An Indian Family with Tyrosine Hydroxylase Deficiency.
Indian Pediatrics 2017 June 16
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.
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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