{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10"],"submitter":["Xu F"],"pubmed_abstract":["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) revealed a novel heterozygous nonsense mutation (c.672delG, p.Trp224Ter) in the MLYCD gene of the proband and her father and a novel heterozygous deletion in 5'-UTR-exon1-intron1 of the MLYCD gene of the proband and her mother. The patient's cardiac function and limb weakness improved considerably after 3 months of a low-fat diet supplemented with L-carnitine. Furthermore, mapping of gene mutations and clinical manifestations was done by case collection."],"journal":["Frontiers in medicine"],"pagination":["1160879"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10189016"],"repository":["biostudies-literature"],"pubmed_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."],"pmcid":["PMC10189016"],"pubmed_authors":["Duan J","Li H","Huang J","Xu F","Zhou Y","Wu Y"],"additional_accession":[]},"is_claimable":false,"name":"Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review.","description":"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) revealed a novel heterozygous nonsense mutation (c.672delG, p.Trp224Ter) in the MLYCD gene of the proband and her father and a novel heterozygous deletion in 5'-UTR-exon1-intron1 of the MLYCD gene of the proband and her mother. The patient's cardiac function and limb weakness improved considerably after 3 months of a low-fat diet supplemented with L-carnitine. Furthermore, mapping of gene mutations and clinical manifestations was done by case collection.","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2026-04-08T13:23:23.568Z","creation":"2025-02-19T04:55:14.575Z"},"accession":"S-EPMC10189016","cross_references":{"pubmed":["37206471"],"doi":["10.3389/fmed.2023.1160879"]}}