Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both. In this article, a late-onset case was reported, and the patient first presen...

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Bibliographic Details
Main Authors: Siqi Cheng, Weihong Chen, Mingmin Zhao, Xing Xing, Lei Zhao, Bowen Ren, Na Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Genetics
Subjects:
CblC defect
MMACHC
depression
genotype–phenotype correlation
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1012558/full

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