This review summarizes the current knowledge on essential vitamins B1, B2, B3, and B5.
These B-complex vitamins must be taken from diet, with the exception of vitamin B3, that can …

As an essential vitamin, the role of riboflavin in human diet and health is increasingly being
highlighted. Insufficient dietary intake of riboflavin is often reported in nutritional surveys and …

Abstract Riboflavin (vitamin B2), a water‐soluble vitamin, is an essential nutrient in higher
organisms as it is not endogenously synthesised, with requirements being met principally by …

Electron transfer flavoprotein (ETF) is an enzyme with orthologs from bacteria to humans.
Human ETF is nuclear encoded by two separate genes, ETFA and ETFB, respectively. After …

Genome sequencing is enabling precision medicine—tailoring treatment to the unique
constellation of variants in an individual's genome. The impact of recurrent pathogenic …

Riboflavin is classified as one of the water-soluble B vitamins. It is part of the functional
group of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) cofactors and …

Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of
metabolic disorders with combined respiratory-chain deficiency and a neuromuscular …

Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle
damage and release of intracellular muscle components into the blood stream leading to …

Mitochondrial fatty acid oxidation disorders (FAODs) are caused by defects in β-oxidation
enzymes, including very long-chain acyl-CoA dehydrogenase (VLCAD), trifunctional protein …

Background Curated databases of genetic variants assist clinicians and researchers in
interpreting genetic variation. Yet, these databases contain some misclassified variants. It is …