All About Vitamins: Vitamin B2, Treatment of Short-Chain Acyl-CoA Dehydrogenase Deficiency

Kyle J. Norton(Scholar, Master of Nutrients), all right reserved.
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Intake of vitamin B2 may associate to enhance the function of the body in normalize the levels of plasma butyrylcarnitine (C4-C) concentration and increased ethylmalonic acid (EMA) excretion involved body fat and energy metabolism.

Vitamin B2 also known as Riboflavin, is a water-soluble, yellow-orange organic compound found abundantly in milk, meat, eggs, nuts, enriched flour, green vegetables, etc. The vitamin is essential for normal cellular growth and function and best known for converting energy from protein, fat, and carbohydrates during metabolism and its antioxidant effects in oxidation-reduction reactions.

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is genetic disorder with a condition in prevention of the body from converting certain fats into energy, caused by rare mutations and/or common gene variants in the SCAD encoding gene, depending to the stages of deficiency.

Furthermore, patients with also experience some other symptoms such as failure to thrive, feeding difficulties, and hypotonia, developed seizure or hypotonia without seizures.

According to the joint study lead by the Hospital for Children, there is no other treatment but generally accepted recommendations for dietary manipulation or use of carnitine and/or riboflavin supplementation. 

In the evaluation of the efficacy of riboflavin treatment in a prospective open-label cohort study involving 16 patients with SCADD, subdivided into mutation/mutation (mut/mut), mutation/variant (mut/var), and variant/variant (var/var) genotype groups, vitamin B2 treatment subgroup showed a significant in decreased EMA excretion and in a subjective clinical improvement in four patients from this group.

Dr. van Maldegem BT, the lead author said, "high-dose riboflavin treatment may improve the biochemical features of SCADD, at least in patients with a mut/var genotype and low FAD levels".

Taking altogether, vitamin B2 may be one of therapeutic treatment to normalize the conversion of fat to energy through suppression of lipid oxidation.

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Sources
(1) Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency by van Maldegem BT1, Duran M, Wanders RJ, Waterham HR, Wijburg FA.(PubMed)