Riboflavin metabolic disorders: a systematic reassessment from mechanisms to clinical practice

Sun Fang; Yang Yanling; Shao Qingliang

doi:10.16689/j.cnki.cn11-9349/r.2026.03.003

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Electronic Journal of Metabolism and Nutrition of Cancer ›› 2026, Vol. 13 ›› Issue (3) : 348-353. DOI: 10.16689/j.cnki.cn11-9349/r.2026.03.003

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Riboflavin metabolic disorders: a systematic reassessment from mechanisms to clinical practice

¹Sun Fang, ²Yang Yanling, ¹Shao Qingliang

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Abstract

Riboflavin, also known as vitamin B₂,is a synthetic precursor of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD). It is one of the key regulatory molecules for energy metabolism and redox balance in the body. The importance of riboflavin has expanded from traditional nutrient functions to the prevention and treatment of multiple diseases. Riboflavin metabolic disorders are classified into nutritional riboflavin deficiency and inherited defects in riboflavin metabolic pathway. The patients manifest a complex spectrum of diseases involving multicomponent defects of riboflavin transport, coenzyme synthesis and mitochondrial delivery. This article systematically reviews the pathogenesis, genetic defects, clinical phenotypes, laboratory examinations, diagnosis and treatment of riboflavin metabolic disorders, aiming to ameliorate the strategies of prevention and treatment, thereby improving clinical prognosis.

Key words

Riboflavin metabolic disorders / Vitamin B₂ / Nutritional riboflavin deficiency / Inherited metabolic disorders / Riboflavin transporter deficiency / Multiple acyl-CoA dehydrogenase deficiency / Riboflavin responsiveness / Newborn screening

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Sun Fang, Yang Yanling, Shao Qingliang. Riboflavin metabolic disorders: a systematic reassessment from mechanisms to clinical practice[J]. Electronic Journal of Metabolism and Nutrition of Cancer. 2026, 13(3): 348-353 https://doi.org/10.16689/j.cnki.cn11-9349/r.2026.03.003

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