AUTHOR=Xu Fang , Wu Yangyang , Huang Jiyi , Zhou Yunguo , Xu Fei , Duan Junkai , Li Hong 

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

JOURNAL=Frontiers in Medicine

VOLUME=Volume 10 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2023.1160879

DOI=10.3389/fmed.2023.1160879

ISSN=2296-858X

ABSTRACT=A 11-months old IVF baby girl with the typical clinical manifestation of malonyl coenzyme A decarboxylase deficiency comprising developmental delay, limb weakness, cardiomyopathy, and excessive excretion of malonic acid and methylmalonic acid was studied in this report. Whole genome sequencing (WGS) revealed that a novel heterozygous nonsense mutation (c.672delG, p.Trp224Ter) in the proband and her father and a novel heterozygous deletion comprising 5’-UTR-exon1-intron1 in the proband and her mother. The patient’s cardiac function and limb weakness improved considerably after 3 months of feeding with low-fat diet supplemented with L-carnitine.