Alteration of Flavin Cofactor Homeostasis in Human Neuromuscular Pathologies

Methods Mol Biol. 2021:2280:275-295. doi: 10.1007/978-1-0716-1286-6_18.


The aim of this short review chapter is to provide a brief summary of the relevance of riboflavin (Rf or vitamin B2) and its derived cofactors flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) for human neuromuscular bioenergetics.Therefore, as a completion of this book we would like to summarize what kind of human pathologies could derive from genetic disturbances of Rf transport, flavin cofactor synthesis and delivery to nascent apoflavoproteins, as well as by alteration of vitamin recycling during protein turnover.

Keywords: FLAD1; LSMFLAD; MADD; RREI; RTD; SLC52As; mitochondrial flavoproteome; riboflavin.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Energy Metabolism
  • Flavin Mononucleotide / metabolism
  • Flavin-Adenine Dinucleotide / metabolism
  • Genetic Predisposition to Disease
  • Humans
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / metabolism
  • Muscle, Skeletal / metabolism*
  • Neurons / metabolism*
  • Riboflavin / metabolism*


  • Flavin-Adenine Dinucleotide
  • Flavin Mononucleotide
  • Riboflavin