A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia

Ahood M. Al-Muslamani, Fouad Ali, Fatima Mahmood


Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive and often treatable neurometabolic disorder with variable phenotypes. More than 20 pathological mutations have been identified in patients with TH deficiency. We report the case of a 10-month-old male patient who presented with developmental delay, hypotonia and oculogyric crises to the Salmaniya Medical Complex in Manama, Bahrain. At a later stage, he developed orofacial dyskinaesia and tremors with hyper-reflexia and clonus. A magnetic resonance imaging scan of the brain showed mild atrophy with widened ventricles and genetic testing revealed a novel homozygous mutation (c.938G>T; p.Arg313Leu) in exon 9 of the TH gene. The patient showed a remarkable response to treatment using combined levodopa-carbidopa. In this case, the orofacial dyskinaesia may be a specific clinical association unique to this novel mutation, which is the first to be described in Bahrain and the Middle East.


Tyrosine Hydroxylase; Dopa-Responsive Dystonia; Case Report; Bahrain.

Full Text:



  • There are currently no refbacks.

Creative Commons License
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.

Sultan Qaboos University Medical Journal, College of Medicine and Health Sciences, Sultan Qaboos University, PO Box 35, Postal Code 123, Al-Khod, Muscat, Oman

ISSN (Print edition): 2075-051X ISSN (Internet edition): 2075-0528

Copyright SQUMJ 2019. This journal and its content is licensed under a Creative Commons Attribution No Derivatives 4.0 International license.

Flag Counter