Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis

Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis

BackgroundThe most common disorder of the intracellular cobalamin metabolism pathway is the combined methylmalonic acidemia and homocysteinemia, cblC type (cblC). There is a variation in its clinical spectrum ranging from severe neonatal-onset forms that are highly fatal to later-onset forms which a...

Full description

Bibliographic Details
Main Authors: Yu-Peng Liu, Ru-Xuan He, Zhe-Hui Chen, Lu-Lu Kang, Jin-Qing Song, Yi Liu, Chun-Yan Shi, Jun-Ya Chen, Hui Dong, Yao Zhang, Meng-Qiu Li, Ying Jin, Jiong Qin, Yan-Ling Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Nutrition
Subjects:
methylmalonic acidemia
homocysteinemia
asymptomatic
cblC type
prenatal diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fnut.2023.1124387/full

Internet

https://www.frontiersin.org/articles/10.3389/fnut.2023.1124387/full

Similar Items