Linked Life Data

17442628

Source:http://linkedlifedata.com/resource/pubmed/id/17442628

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2007-5-16
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1567-7249
pubmed:author
pubmed:issnType
Print
pubmed:volume
7 Suppl
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
S175-80
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
pubmed:affiliation
Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. iain.hargreaves@uclh.nhs.uk
pubmed:publicationType
Journal Article, Review