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An Indian family with tyrosine hydroxylase deficiency

Authors:	Jyotindra Narayan Goswami Naveen Sankhyan Pratibha D Singhi

Institution:	1.Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatrics Centre,PGIMER,Chandigarh,India

Abstract:	Background Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder. Case Characteristics An Indian family with the disorder. Observation Phenotypic variation, elevated serum prolactin, genetic confirmation, and partial treatment-responsiveness. Messages Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis.

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