Novel CUBN Mutation in a Young Child With Megaloblastic Anemia.
Journal
Journal of pediatric hematology/oncology
ISSN: 1536-3678
Titre abrégé: J Pediatr Hematol Oncol
Pays: United States
ID NLM: 9505928
Informations de publication
Date de publication:
01 05 2021
01 05 2021
Historique:
received:
18
02
2020
accepted:
03
09
2020
pubmed:
9
10
2020
medline:
15
5
2021
entrez:
8
10
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33031161
pii: 00043426-202105000-00030
doi: 10.1097/MPH.0000000000001958
doi:
Substances chimiques
Receptors, Cell Surface
0
intrinsic factor-cobalamin receptor
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e546-e549Informations de copyright
Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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