Online Articles: Clinical and Laboratory ObservationsNovel CUBN Mutation in a Young Child With Megaloblastic AnemiaFalcon, Corey MD*; Hamm, Austin J. MD†; Li, Geling MD‡; Lebensburger, Jeffrey MD§; Howard, Thomas H. MD§; Xavier, Ana C. MD§Author Information *Department of Pediatrics, Division of Hematology/Oncology, Ochsner Hospital for Children, New Orleans, LA †East Tennessee Children’s Hospital, Knoxville, TN ‡Department of Pathology, Division of Anatomic Pathology §Department of Pediatrics, Division of Hematology/Oncology, University of Alabama at Birmingham, Birmingham, AL The authors declare no conflict of interest. Reprints: Corey Falcon, MD, Ochsner Hospital for Children, 1315 Jefferson Hwy. New Orleans, LA 70122 (e-mail: [email protected]). Journal of Pediatric Hematology/Oncology: May 2021 - Volume 43 - Issue 4 - p e546-e549 doi: 10.1097/MPH.0000000000001958 Buy Metrics Abstract Inherited disorders of cobalamin (Cbl, vitamin B12) metabolism are rare causes of megaloblastic anemia and neurologic abnormalities. More prevalent in certain ethnic groups, these disorders occur despite adequate Cbl intake and usually result from abnormal vitamin cell transport or processing. Cubilin (CUBN, intrinsic factor-cobalamin receptor) is the intestinal receptor for the endocytosis of intrinsic factor—vitamin B12. Its gene is localized to chromosome 10p13 and mutations involving CUBN have been described in patients with congenital megaloblastic anemia. In this report, we describe a novel CUBN pathogenic variant in a child with megaloblastic anemia. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.