Anxiety and depression in tyrosine hydroxylase deficiency: a case report

Abstract

Background: Tyrosine hydroxylase (TH) deficiency is a very rare genetic disorder of monoamine synthesis which – alongside Guanosine triphosphate (GTP) cyclohydrolase deficiency - is one of the metabolic dopa-responsive dystonias. These disorders classically present as a dystonia with onset in adolescence which is non-progressive and responds to standard dopaminergic treatment: however, little is known about the relationship between TH deficiency and psychiatric illness. Case Presentation: We describe a case of a young woman who, in the absence of any heralding psychiatric symptomatology of any nature, developed a severe and limiting panic disorder at around the time of onset of her movement disorder in the setting of TH deficiency, which impacts dopamine synthesis. Conclusion: Neurometabolic disorders that affect neurotransmitter function frequently present with psychiatric symptomatology and can provide models for understanding some frequently presenting psychiatric illnesses such as depression and anxiety. We discuss the interplay between the dopaminergic and serotonergic systems, and how an ostensibly dopaminergic disorder could produce what has long been understood to be a serotonergically-driven anxiety syndrome.