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AuthorAl-Dewik, Nader
AuthorAli, Alaa
AuthorMahmoud, Yassmin
AuthorShahbeck, Noora
AuthorAli, Rehab
AuthorMahmoud, Laila
AuthorAl-Mureikhi, Mariam
AuthorAl-Mesaifri, Fatma
AuthorMusa, Sara
AuthorEl-Akouri, Karen
AuthorAlMulla, Mariam
AuthorAl Saadi, Reem
AuthorNasrallah, Gheyath
AuthorSamara, Muthanna
AuthorAbdoh, Ghassan
AuthorAl Rifai, Hilal
AuthorHäberle, Johannes
AuthorThöny, Beat
AuthorKruger, Warren
AuthorBlom, Henk J
AuthorBen-Omran, Tawfeg
Available date2019-05-09T10:42:00Z
Publication Date2019-04-01
Publication NameJournal of Inherited Metabolic Diseaseen_US
Identifierhttp://dx.doi.org/10.1002/jimd.12099
CitationAl‐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.
ISSN0141-8955
URIhttp://hdl.handle.net/10576/11529
AbstractClassical 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.
SponsorQatar National Research Fund , Grant/Award Number: 7‐355‐3‐088
Languageen
PublisherWiley
SubjectClassical homocystinuria
SubjectNatural history
SubjectQatar
Subjectconsanguinity
Subjectfounder mutation p.R336C CBS gene
TitleNatural History, with Clinical, Biochemical and Molecular Characterization, of Classical Homocystinuria in the Qatari Population
TypeArticle
dc.identifier.essn 1573-2665


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