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المؤلفAl-Dewik, Nader
المؤلفAli, Alaa
المؤلفMahmoud, Yassmin
المؤلفShahbeck, Noora
المؤلفAli, Rehab
المؤلفMahmoud, Laila
المؤلفAl-Mureikhi, Mariam
المؤلفAl-Mesaifri, Fatma
المؤلفMusa, Sara
المؤلفEl-Akouri, Karen
المؤلفAlMulla, Mariam
المؤلفAl Saadi, Reem
المؤلفNasrallah, Gheyath
المؤلفSamara, Muthanna
المؤلفAbdoh, Ghassan
المؤلفAl Rifai, Hilal
المؤلفHäberle, Johannes
المؤلفThöny, Beat
المؤلفKruger, Warren
المؤلفBlom, Henk J
المؤلفBen-Omran, Tawfeg
تاريخ الإتاحة2019-05-09T10:42:00Z
تاريخ النشر2019-04-01
اسم المنشورJournal of Inherited Metabolic Disease
المعرّفhttp://dx.doi.org/10.1002/jimd.12099
الاقتباسAl‐Dewik, Nader. et. al. Natural History, with Clinical, Biochemical and Molecular Characterization, of Classical Homocystinuria in the Qatari Population. Journal of Inherited Metabolic Disease. 2019.
الرقم المعياري الدولي للكتاب0141-8955
معرّف المصادر الموحدhttp://hdl.handle.net/10576/11529
الملخصClassical homocystinuria (HCU) is the most common inborn error of metabolism in Qatar, with an incidence of 1:1800, and is caused by the Qatari founder p.R336C mutation in the CBS gene. This study describes the natural history and clinical manifestations of HCU in the Qatari population. A single center study was performed between 2016 and 2017 in 126 Qatari patients, from 82 families. Detailed clinical and biochemical data were collected and Stanford-Binet intelligence, quality of life and adherence to treatment assessments were conducted prospectively. Patients were assigned to one of three groups, according to mode of diagnosis: 1) Late Diagnosis Group (LDG), 2) Family Screening Group (FSG), and 3) Newborn Screening Group (NSG). Of the 126 patients, 69 (55%) were in the LDG, 44 (35%) in the NSG, and 13 (10%) in the FSG. The leading factors for diagnosis in the LDG were ocular manifestations (49%), neurological manifestations (45%), thromboembolic events (4%), and hyperactivity and behavioral changes (1%). Both FSG and NSG groups were asymptomatic at time of diagnosis. NSG had significantly higher IQ, QoL, and adherence values compared with the LDG. The LDG and FSG had significantly higher Met levels than the NSG. The LDG also had significantly higher tHcy levels than the NSG and FSG. Regression analysis confirmed these results even when adjusting for age at diagnosis, current age or adherence. These findings increase understanding of the natural history of HCU and highlight the importance of early diagnosis and treatment. This article is protected by copyright. All rights reserved.
راعي المشروعQatar National Research Fund , Grant/Award Number: 7‐355‐3‐088
اللغةen
الناشرWiley
الموضوعClassical homocystinuria
Natural history
Qatar
consanguinity
founder mutation p.R336C CBS gene
العنوانNatural History, with Clinical, Biochemical and Molecular Characterization, of Classical Homocystinuria in the Qatari Population
النوعArticle
ESSN1573-2665
dc.accessType Open Access


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