Transient neonatal multiple acyl-CoA dehydrogenase deficiency due to riboflavin deficiency in an infant on total parenteral nutrition
2
Issued Date
2025-05-05
Resource Type
eISSN
1757790X
Scopus ID
2-s2.0-105004709975
Pubmed ID
40324939
Journal Title
BMJ case reports
Volume
18
Issue
5
Rights Holder(s)
SCOPUS
Bibliographic Citation
BMJ case reports Vol.18 No.5 (2025)
Suggested Citation
Panichsillaphakit E., Laohathai P., Dhachpramuk D., Vatanavicharn N. Transient neonatal multiple acyl-CoA dehydrogenase deficiency due to riboflavin deficiency in an infant on total parenteral nutrition. BMJ case reports Vol.18 No.5 (2025). doi:10.1136/bcr-2025-265089 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/110199
Title
Transient neonatal multiple acyl-CoA dehydrogenase deficiency due to riboflavin deficiency in an infant on total parenteral nutrition
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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.