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 …

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 …

Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal
recessive disorder caused by deficiency of electron transfer flavoprotein or electron transfer …

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

Background Lipid-storage myopathy (LSM), defined by triglyceride accumulation in muscle
fibres, is a heterogeneous group of lipid metabolic disorders predominantly affecting skeletal …

In this report, we discovered a new entity named cataract, alopecia, oral mucosal disorder,
and psoriasis‐like (CAOP) syndrome in two unrelated and ethnically diverse patients …

The major cause of lipid storage myopathies (LSM) in China is multiple acyl-CoA
dehydrogenase deficiency (MADD) caused by ETFDH mutations. We here present an …

Riboflavin-responsive forms of multiple acyl-CoA dehydrogenation deficiency (RR-MADD)
have been known for years, but with presumed defects in the formation of the flavin adenine …

Abstract Multiple Acyl-CoA dehydrogenation deficiency (MADD) is an autosomal recessive
disorder of fatty acid oxidation and amino-acid metabolism. Most patients with late-onset …

Riboflavin, commonly known as vitamin B2, is the precursor of flavin cofactors. It is present in
our typical diet, and inside the cells it is metabolized to FMN and FAD. As a result of their …