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Abstract

April - June 2024 | Vol. 17 | Issue 2 | 08-09
Tyrosine Hydroxylase Deficiency: Report of a Novel Phenotype
Sunil Taneja
Sushrut Medical Centre Pvt Ltd, Kanpur, India.
Address for Correspondence Email: tanejasunil17@gmail.com
 
Abstract
Dopamine-responsive dystonia is a rare disorder. The clinical diagnosis is usually made based on the response to levodopa. It is a conglomerate of three enzymatic deficiencies: guanosine triphosphate cyclohydrolase 1, sepiapterin reductase and tyrosine hydroxylase. All of these have some classical presentations and variability in the time of onset and severity, but dystonia and diurnal variation of symptoms have been reported in almost all patients to date. Here, we report the case of a male child, born to consanguineous parents and having symptoms since early infancy, who had only generalized hypotonia with no diurnal variation in symptoms. There was a dramatic response to levodopa therapy. Genetic evaluation revealed a homozygous known pathogenic variant c.698G>A in the TH gene (NM_199292.3), confirming the diagnosis of tyrosine hydroxylase deficiency.
 
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