Riboflavin deficiency
Definition:
Riboflavin deficiency is the common vitamin deficiency. Riboflavin is essential for cellular function, as it participates in a diversity of redox reactions central to human metabolism. Genetic variations in the riboflavin metabolism or transportation of riboflavin can cause multiple acyl-CoA dehydrogenation deficiency [DS:H00178]. The most common variations are located in the riboflavin transporter 2 (RFVT2) and 3 (RFVT3), that are highly expressed in brain and intestinal tissues, respectively [DS:H01903]. Deficiency of RFVT1, encoded by the SLC52A1 gene, highly expressed in the placenta, has also been reported.
References:
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[1]. Signe Mosegaard, et al. An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Mol Genet Metab. 2017 Dec;122(4):182-188. [Content Brief]
[2]. Signe Mosegaard, et al. Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism. Int J Mol Sci. 2020 May 28;21(11):3847. [Content Brief]
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