[
    {
        "id": "osp-11118",
        "type": "article-journal",
        "title": "A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia",
        "author": [
            {
                "family": "Al-Muslamani",
                "given": "Ahood M."
            },
            {
                "family": "Ali",
                "given": "Fouad"
            },
            {
                "family": "Fatima",
                "given": ""
            }
        ],
        "URL": "https://omanscience.com/ar/articles/a-new-tyrosine-hydroxylase-genotype-with-orofacial-dyskinaesia",
        "language": "en",
        "issued": {
            "date-parts": [
                [
                    2025
                ]
            ]
        },
        "container-title": "Sultan Qaboos University Medical Journal",
        "volume": "14",
        "issue": "3",
        "page": "397-400",
        "DOI": "10.18295/2075-0528.1606",
        "publisher": "Sultan Qaboos University",
        "ISSN": "2075-051X",
        "abstract": "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."
    }
]