[
    {
        "id": "osp-11056",
        "type": "article-journal",
        "title": "Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates",
        "author": [
            {
                "family": "Alshamsi",
                "given": "Aisha"
            },
            {
                "family": "Hertecant",
                "given": "Jozef L."
            },
            {
                "family": "Souid",
                "given": "Sania"
            },
            {
                "family": "Abdul-Kader",
                "given": ""
            },
            {
                "family": "Al-Jasmi",
                "given": "Fatma"
            }
        ],
        "URL": "https://omanscience.com/en/articles/mutation-spectrum-and-birth-prevalence-of-inborn-errors-of-metabolism-among-emiratis-a-study-from-tawam-hospital-metabolic-center-united-arab-emirates",
        "language": "en",
        "issued": {
            "date-parts": [
                [
                    2025
                ]
            ]
        },
        "container-title": "Sultan Qaboos University Medical Journal",
        "volume": "14",
        "issue": "1",
        "page": "42-49",
        "DOI": "10.18295/2075-0528.1545",
        "publisher": "Sultan Qaboos University",
        "ISSN": "2075-051X",
        "abstract": "Objectives: This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis. Methods: The reported mutation spectrum included all patients who were diagnosed with IEM (excluding those with lysosomal storage diseases [LSD]) at Tawam Hospital Metabolic Center in Abu Dhabi, United Arab Emirates, between January 1995 and May 2013. Disease prevalence (per 100,000 live births) was estimated from data available for 1995–2011. Results: In 189 patients, 57 distinct IEM were diagnosed, of which 20 (35%) entities were previously reported LSD (65 patients with 39 mutations), with a birth prevalence of 26.87/100,000. This study investigated the remaining 37 (65%) patients with other IEM (124 patients with 62 mutations). Mutation analysis was performed on 108 (87%) of the 124 patients. Five patients with biotinidase deficiency had compound heterozygous mutations, and two siblings with lysinuric protein intolerance had two homozygous mutations. The remaining 103 (95%) patients had homozygous mutations. As of this study, 29 (47%) of the mutations have been reported only in Emiratis. Two mutations were found in three tribes (biotinidase deficiency [BTD, c.1330G>C] and phenylketonuria [PAH, c.168+5G>C]). Two mutations were found in two tribes (isovaleric aciduria [IVD, c.1184G>A] and propionic aciduria [PCCB, c.990dupT]). The remaining 58 (94%) mutations were each found in individual tribes. The prevalence was 48.37/100,000. The most prevalent diseases (2.2–4.9/100,000) were biotinidase deficiency; tyrosinemia type 1; phenylketonuria; propionic aciduria; glutaric aciduria type 1; glycogen storage disease type Ia, and mitochondrial deoxyribonucleic acid depletion. Conclusion: The IEM birth prevalence (LSD and non-LSD) was 75.24/100,000. These results justify implementing prevention programmes that incorporate genetic counselling and screening."
    }
]