LEADER 02588nam 2200361 450 001 9910674042703321 005 20230629120803.0 035 $a(CKB)4920000000094936 035 $a(NjHacI)994920000000094936 035 $a(EXLCZ)994920000000094936 100 $a20230629d2018 uy 0 101 0 $aeng 135 $aur||||||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 00$aCurrent Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease /$fedited by Iain P. Hargreaves 210 1$aBasel :$cMDPI - Multidisciplinary Digital Publishing Institute,$d2018. 210 4$dİ2018 215 $a1 online resource (vii, 238 pages) $cillusrations 311 $a3-03897-240-1 320 $aIncludes bibliographical references. 330 $aMitochondrial disease constitutes a complex and heterogeneous group of disorders resulting from a defect in mitochondrial respiratory chain (MRC) enzyme activity. In view of the dual regulation of the MRC, exercised by both the mitochondrial and nuclear genome, mutations in either mitochondrial or nuclear DNA can result in a MRC deficiency. Whilst a single organ can be affected, MRC disorders often result in a multi-organ system presentation with prominent neurological and myopathic features. The diagnosis of MRC disorders can be complex, and requires a coordinated interplay of a number of disciplines. However, biochemical determination of metabolites in blood, cerebral spinal fluid (CSF) and/or urine are generally considered to be first-line investigations for the diagnosis of these disorders, although they lack sensitivity and specificity. Furthermore, there is a lack of consensus on the overall utility of monitoring other biochemical parameters, which may be of diagnostic value. For example, although oxidative stress may contribute to the pathogenesis of mitochondrial disorders, few centers monitor this as part of their diagnostic repertoire. Therefore, the purpose of this Special Issue was to highlight potential biomarkers of mitochondrial disease and to discuss the appropriateness of biochemical markers to monitor disease progression and therapeutic intervention. 606 $aMitochondrial pathology 615 0$aMitochondrial pathology. 676 $a616.07 702 $aHargreaves$b Iain P.$f1967- 801 0$bNjHacI 801 1$bNjHacl 906 $aBOOK 912 $a9910674042703321 996 $aCurrent Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease$92932967 997 $aUNINA