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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Detalles Bibliográficos
Autores principales: Cheng, Siqi, Chen, Weihong, Zhao, Mingmin, Xing, Xing, Zhao, Lei, Ren, Bowen, Li, Na
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631435/
https://www.ncbi.nlm.nih.gov/pubmed/36338977
http://dx.doi.org/10.3389/fgene.2022.1012558

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631435/
https://www.ncbi.nlm.nih.gov/pubmed/36338977
http://dx.doi.org/10.3389/fgene.2022.1012558

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