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Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).

Journal of inherited metabolic disease (2012-01-11)
Rita Horvath
ABSTRACT

Riboflavin and ubiquinone (Coenzyme Q(10), CoQ(10)) deficiencies are heterogeneous groups of autosomal recessive conditions affecting both children and adults. Riboflavin (vitamin B(2))-derived cofactors are essential for the function of numerous dehydrogenases. Genetic defects of the riboflavin transport have been detected in Brown-Vialetto-Van Laere and Fazio-Londe syndromes (C20orf54), and haploinsufficiency of GPR172B has been proposed in one patient to cause persistent riboflavin deficiency. Mutations in the electron tranferring fravoprotein genes (ETFA/ETFB) and its dehydrogenase (ETFDH) are causative for multiple acyl-CoA dehydrogenase deficiency. Mutations in ACAD9, encoding the acyl-CoA dehydrogenase 9 protein were recently reported in mitochondrial disease with respiratory chain complex I deficiency. All these conditions may respond to riboflavin therapy. CoQ(10) is a lipid-soluble component of the cell membranes, where it functions as a mobile electron and proton carrier, but also participates in other cellular processes as a potent antioxidant, and by influencing pyrimidine metabolism. The increasing number of molecular defects in enzymes of the CoQ(10) biosynthetic pathways (PDSS1, PDSS2, COQ2, COQ6, COQ9, CABC1/ADCK3) underlies the importance of these conditions. The clinical heterogeneity may reflect blocks at different levels in the complex biosynthetic pathway. Despite the identification of several primary CoQ(10) deficiency genes, the number of reported patients is still low, and no true genotype-phenotype correlations are known which makes the genetic diagnosis still difficult. Additionally to primary CoQ(10) deficiencies, where the mutation impairs a protein directly involved in CoQ(10) biosynthesis, we can differentiate secondary deficiencies. CoQ(10) supplementation may be beneficial in both primary and secondary deficiencies and therefore the early recognition of these diseases is of utmost importance.

MATERIALS
Product Number
Brand
Product Description

Supelco
Riboflavin (B2), analytical standard
Riboflavin for peak identification, European Pharmacopoeia (EP) Reference Standard
Sigma-Aldrich
(−)-Riboflavin, meets USP testing specifications
Sigma-Aldrich
(−)-Riboflavin, BioReagent, suitable for cell culture, suitable for insect cell culture, ≥98%
Sigma-Aldrich
(−)-Riboflavin, from Eremothecium ashbyii, ≥98%
Supelco
Riboflavin, Pharmaceutical Secondary Standard; Certified Reference Material
USP
Riboflavin, United States Pharmacopeia (USP) Reference Standard
Riboflavin, European Pharmacopoeia (EP) Reference Standard