An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency

• Published in: Zhongguo dang dai er ke za zhi 2016-10, Vol.18 (10), p.1019-1025
• Main Authors: Tan, Jian-Qiang, Chen, Da-Yu, Li, Zhe-Tao, Huang, Ji-Wei, Yan, Ti-Zhen, Cai, Ren
• Format: Article
• Language: Chinese
• Subjects: Acyl-CoA Dehydrogenase - deficiency; Acyl-CoA Dehydrogenase - genetics; Carnitine - analogs & derivatives; Carnitine - blood; Female; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors - genetics; Male; Mutation; Urea - analysis
• ISSN: 1008-8830
• DOI: 10.7499/j.issn.1008-8830.2016.10.021

Medium- and short-chain acyl-CoA dehydrogenase deficiency is a disorder of fatty acid β-oxidation. Gene mutation prevents medium- and short-chain fatty acids from entry into mitochondria for oxidation, which leads to multiple organ dysfunction. In this study, serum acylcarnitines and the organic acid profile in urea were analyzed in two children whose clinical symptoms were hypoglycemia and metabolic acidosis. Moreover, gene mutations in the two children and their parents were evaluated. One of the patients was a 3-day-old male who was admitted to the hospital due to neonatal asphyxia, sucking weakness, and sleepiness. The serum acylcarnitine profile showed increases in medium-chain acylcarnitines (C6-C10), particularly in C8, which showed a concentration of 3.52 μmol/L (reference value: 0.02-0.2 μmol/L). The analysis of organic acids in urea gave a normal result. Sanger sequencing revealed a reported c.580A>G (p.Asn194Asp) homozygous mutation at exon 7 of the ACADM gene. The other patient was a 3-month-old f