Article
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.
American journal of medical genetics. Part A - 1 Nov 2020
Pillai Nishitha R, Amin Hitha, Gijavanekar Charul, Liu Ning, Issaq Niveen, Broniowska Katarzyna A, Bertuch Alison A, Sutton V Reid, Elsea Sarah H, Scaglia Fernando
Abstract excerpt
Riboflavin transporter deficiency (RTD) (MIM #614707) is a neurogenetic disorder with its most common manifestations including sensorineural hearing loss, peripheral neuropathy, respiratory insufficiency, and bulbar palsy. Here, we present a 2-year-old boy whose initial presentation was severe macrocytic anemia necessitating multiple blood transfusions and intermittent neutropenia; he subsequently developed...
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