Τρίτη 20 Ιουνίου 2017

An Indian family with tyrosine hydroxylase deficiency

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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