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• W2038536707 startingPage "S175" @default.
• W2038536707 abstract "Mevalonic aciduria (MVA) and phenylketonuria (PKU) are inborn errors of metabolism caused by deficiencies in the enzymes mevalonate kinase and phenylalanine 4-hydroxylase, respectively. Despite numerous studies the factors responsible for the pathogenicity of these disorders remain to be fully characterised. In common with MVA, a deficit in coenzyme Q10 (CoQ10) concentration has been implicated in the pathophysiology of PKU. In MVA the decrease in CoQ10 concentration may be attributed to a deficiency in mevalonate kinase, an enzyme common to both CoQ10 and cholesterol synthesis. However, although dietary sources of cholesterol cannot be excluded, the low/normal cholesterol levels in MVA patients suggests that some other factor may also be contributing to the decrease in CoQ10.The main factor associated with the low CoQ10 level of PKU patients is purported to be the elevated phenylalanine level. Phenylalanine has been shown to inhibit the activities of both 3-hydroxy-3-methylglutaryl-CoA reductase and mevalonate-5-pyrophosphate decarboxylase, enzymes common to both cholesterol and CoQ10 biosynthesis. Although evidence of a lowered plasma/serum CoQ10 level has been reported in MVA and PKU, few studies have assessed the intracellular CoQ10 concentration of patients. Plasma/serum CoQ10 is influenced by dietary intake as well as its lipoprotein content and therefore may be limited as a means of assessing intracellular CoQ10 concentration. Whether the pathogenesis of MVA and PKU are related to a loss of CoQ10 has yet to be established and further studies are required to assess the intracellular CoQ10 concentration of patients before this relationship can be confirmed or refuted." @default.
• W2038536707 created "2016-06-24" @default.
• W2038536707 creator A5087252357 @default.
• W2038536707 date "2007-06-01" @default.
• W2038536707 modified "2023-10-16" @default.
• W2038536707 title "Coenzyme Q10 in phenylketonuria and mevalonic aciduria" @default.
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• W2038536707 doi "https://doi.org/10.1016/j.mito.2007.02.009" @default.
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