BMJ Case Rep. 2025 May 5;18(5):e265089. doi: 10.1136/bcr-2025-265089.
ABSTRACT
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.
PMID:40324939 | DOI:10.1136/bcr-2025-265089
