Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review

Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review

The subject of the study is an 11-month old IVF baby girl with the typical clinical manifestation of malonyl coenzyme A decarboxylase deficiency, including developmental delay, limb weakness, cardiomyopathy, and excessive excretion of malonic acid and methylmalonic acid. Whole genome sequencing (WGS...

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Bibliographic Details
Main Authors: Fang Xu, Yangyang Wu, Jiyi Huang, Yunguo Zhou, Fei Xu, Junkai Duan, Hong Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Medicine
Subjects:
MLYCD
malonyl coenzyme A decarboxylase deficiency
cardiomyopathy
novel mutation
metabolic disease
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2023.1160879/full

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2023.1160879/full

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