Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome

Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive hereditary disease due to mutations in SLC19A2. Some cases show familial inheritance.Case report: A female patient (from a gravida 1, para 1 mother) of 3.5 years of age was admitted to the Pediatric He...

Full description

Bibliographic Details
Main Authors: Pengjiang Kang, Weihua Zhang, Jinquan Wen, Jiming Zhang, Fei Li, Wuxia Sun
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Pediatrics
Subjects:
thiamine
diabetes
megaloblastic anemia syndrome
SLC19A2
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.630329/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2021.630329/full

Similar Items