Medium‐chain acyl‐coenzyme A dehydrogenase deficiency: Six cases in the Chinese population

• Published in: Pediatrics international Vol. 61; no. 6; pp. 551 - 557
• Main Authors: Li, Yanhan, Zhu, Ruoxin, Liu, Yi, Song, Jinqing, Xu, Jing, Yang, Yanling
• Format: Journal Article
• Language: English
• Published: Australia Blackwell Publishing Ltd 01.06.2019
• Subjects: ACADM; Acyl-CoA Dehydrogenase - blood; Acyl-CoA Dehydrogenase - deficiency; Acyl-CoA Dehydrogenase - genetics; Biomarkers - blood; Carnitine; Carnitine - analogs & derivatives; Carnitine - blood; Child, Preschool; China; Coenzyme A; Coma; Dehydrogenase; Dehydrogenases; Diarrhea; Fatty acids; Female; Genetic Markers; Hereditary diseases; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors - blood; Lipid Metabolism, Inborn Errors - diagnosis; Lipid Metabolism, Inborn Errors - genetics; Male; Medical screening; medium‐chain acyl‐CoA dehydrogenase deficiency; Mutation; Myasthenia; Neonatal Screening; Neuromuscular junctions; Pediatrics; Vomiting; China; medium-chain acyl-CoA dehydrogenase deficiency; ACADM
• ISSN: 1328-8067; 1442-200X
• DOI: 10.1111/ped.13872

Background Medium‐chain acyl‐coenzyme A dehydrogenase deficiency (MCADD) is a rare autosomal recessive disorder that affects the degradation of medium‐chain fatty acids. Few cases of MCADD have been documented to date in mainland China. Methods Medium‐chain acyl‐coenzyme A dehydrogenase deficiency was diagnosed in six patients (three girls and three boys) from six unrelated Chinese families at ages ranging from 10 days to 3 years old. The diagnosis was confirmed by the identification of a primary biomarker of serum octanoyl‐carnitine (C8) and genetic pathogenic mutations. Results Only two patients were admitted because of vomiting, diarrhea, myasthenia, and coma; the other four patients were diagnosed via the newborn screening process. Six mutations were found in acyl‐CoA dehydrogenase medium chain (ACADM). One mutation (c.727C>T) was novel and the others (c.158G>A, c.387+1delG, c.449_452del, c.1045C>T, and c.1085G>A) have been previously reported. Conclusions Six Chinese cases of MCADD were identified. One novel mutation was found. c.449_452del and c.1085G>A were common mutations in this study.