{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:14:26Z","timestamp":1761718466084},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,2,9]],"date-time":"2016-02-09T00:00:00Z","timestamp":1454976000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81570516","81270936"],"award-info":[{"award-number":["81570516","81270936"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:sec><jats:label \/><jats:p>Malonyl\u2010CoA decarboxylase deficiency is an extremely rare autosomal recessive inborn error of fatty acid metabolism. It usually follows a severe disease course and presents poor prognosis without treatment. Here, we report an affected female juvenile with a mild clinical and biochemical phenotype who mainly featured poor schooling without cardiomyopathy and metabolic acidosis. She was suspected of malonyl\u2010CoA decarboxylase deficiency due to a 57\u2010kb deletion in 16q23.3 encompassing the <jats:italic>MLCYD<\/jats:italic> gene revealed by chromosome microarray. Malonyl\u2010CoA decarboxylase deficiency was then confirmed by acylcarnitine analysis and organic acid analysis. Real\u2010time PCR analysis of the patient revealed the first three exon deletion of the <jats:italic>MLYCD<\/jats:italic> gene, which was maternally inherited. DNA sequencing of the <jats:italic>MLYCD<\/jats:italic> gene of the patient identified a novel heterozygous mutation (c.911G&gt;A, p.G304E) in exon 4 that was paternally inherited. The patient urine malonic acid dissolved and had a better school record in 6 month after initiation of fat\u2010limited diet. At 1 year post treatment, the blood malonylcarnitine level decreased remarkably. Our result expands the phenotype of malonyl\u2010CoA decarboxylase deficiency and suggests attentions should be paid to the mild form of disorders, for example, malonyl\u2010CoA decarboxylase deficiency, which usually present a severe disease course. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37590","type":"journal-article","created":{"date-parts":[[2016,2,9]],"date-time":"2016-02-09T13:00:18Z","timestamp":1455022818000},"page":"1347-1351","source":"Crossref","is-referenced-by-count":9,"title":["A new case of malonyl\u2010CoA decarboxylase deficiency with mild clinical features"],"prefix":"10.1002","volume":"170","author":[{"given":"Huan","family":"Liu","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology and Genetic Metabolism Xinhua Hospital Shanghai Institute for Pediatric Research Shanghai Jiao Tong University School of Medicine Shanghai 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