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Article

Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2024

Devadoss Gandhi Geethanjali, Aliyev Elbay, Syed Najeeb, Vempalli Fazulur Rehaman, Saad Chadi, Mbarek Hamdi, Al-Saei Omayma, Al-Maraghi Aljazi, Abdi Mona, Krishnamoorthy Navaneethakrishnan, Badii Ramin, Akil Ammira A, Ben-Omran Tawfeg, Fakhro Khalid A

Abstract excerpt

PURPOSE: To date, approximately 1400 inherited metabolic disorders (IMDs) have been described, some of which are treatable. It is estimated that 2% to 3% of live births worldwide are affected by treatable IMDs. Roughly 80% of IMDs are autosomal recessive, leading to a potentially higher incidence in regions with high consanguinity. METHODOLOGY: The study utilized genome sequencing data from 14,060 adult Qatari...

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PMID: 39286960
DOI: 10.1016/j.gim.2024.101268

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