Panichsillaphakit Ekkarit, Laohathai Phakwan, Dhachpramuk Dhachdanai, Vatanavicharn Nithiwat
Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
BMJ Case Rep. 2025 May 5;18(5):e265089. doi: 10.1136/bcr-2025-265089.
Riboflavin, a vital water-soluble vitamin, serves as a cofactor for numerous enzymes involved in cellular energy metabolism. Riboflavin deficiency can lead to diverse clinical manifestations and metabolic changes that mimic multiple acyl-CoA dehydrogenase deficiency (MADD). We report a case of a preterm female infant dependent on total parenteral nutrition (TPN) with insufficient riboflavin intake. The infant exhibited clinical and biochemical features resembling MADD; however, molecular analysis revealed no pathogenic or likely pathogenic variants associated with MADD or riboflavin transporter defects. Treatment with riboflavin, L-carnitine and multivitamin supplementation resulted in the resolution of clinical and biochemical abnormalities within 1 week. This case highlights that the transient MADD-like features were attributable to riboflavin deficiency induced by TPN.
核黄素是一种重要的水溶性维生素，作为参与细胞能量代谢的多种酶的辅助因子。核黄素缺乏可导致多种临床表现和代谢变化，类似于多种酰基辅酶A脱氢酶缺乏症（MADD）。我们报告一例依赖全胃肠外营养（TPN）且核黄素摄入不足的早产女婴病例。该婴儿表现出类似于MADD的临床和生化特征；然而，分子分析未发现与MADD或核黄素转运体缺陷相关的致病或可能致病变异。补充核黄素、左旋肉碱和多种维生素治疗1周内临床和生化异常得以缓解。该病例强调，短暂的MADD样特征归因于TPN引起的核黄素缺乏。
