A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review

A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review

IntroductionMalonyl coenzyme A decarboxylase deficiency is caused by an abnormality in the MLYCD gene. The clinical manifestations of the disease involve multisystem and multiorgan.MethodsWe collected and analyzed a patient's clinical characteristics, genetic chain of evidence and RNA-seq. We u...

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Bibliographic Details
Main Authors: Cong Zhao, Hua Peng, Nanchuan Jiang, Yalan Liu, Yan Chen, Jie Liu, Qing Guo, Zubo Wu, Lin Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-04-01
Series:Frontiers in Pediatrics
Subjects:
MCD
MLYCD
malonyl coenzyme A decarboxylase deficiency
developmental retardation
improvement of cardiomyopathy
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1133134/full

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https://www.frontiersin.org/articles/10.3389/fped.2023.1133134/full

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