... CSF Other evidence of disturbed oxidative phosphorylation or pyruvate dehydrogenase activity Identification of pathogenic variant(s) in ... Mitochondrial membrane lipid remodeling, quality control, and dynamics; Pyruvate dehydrogenase (see Primary Pyruvate Dehydrogenase Complex Deficiency Overview ), ...

... BCKDH) complex, α-ketoglutarate dehydrogenase (αKGDH) complex, and pyruvate dehydrogenase (PDH) complex [ Chuang et al 2013 ]. The ... DLAT DLD PDHA1 PDHB PDHX PDK3 PDP1 Primary pyruvate dehydrogenase complex deficiency AR XL 4 Most commonly ...

... including urine organic acids, plasma amino acids, lactate, pyruvate, and electrolytes) is indicated for all children with ... it is under way, urine organic acids and pyruvate and lactate levels should be considered. Supplementation with ...

... Neurologic eval Brain MRI & MRS Plasma & CSF lactate & pyruvate Urine organic acids Consider EEG if seizures are ... Dichloroacetate (DCA) reduces blood lactate by activating the pyruvate dehydrogenase complex. Mixed clinical outcomes have been observed ...

... most likely to have CTLN1, other conditions including pyruvate carboxylase deficiency and dihydrolipoamide dehydrogenase deficiency (see Differential ... citrin deficiency ), argininosuccinate lyase deficiency (argininosuccinic aciduria), ... carboxylase deficiency . Hyperammonemia. It is critical to distinguish ...

... mg/dL (>1 g/L) Elevated lactate and pyruvate in blood and CSF; commonly elevated at rest ... Disease Validity: Leigh syndrome ), including defects of the pyruvate dehydrogenase complex (see Primary Pyruvate Dehydrogenase Complex Deficiency ...

... acid, & 3-methylcrotonylglycine caused by defective activity of pyruvate carboxylase, propionyl-CoA carboxylase, & 3-methylcrotonyl-CoA carboxylase. ... metabolism (e.g., urea cycle disorders, organic acidemias, pyruvate carboxylase deficiency, & carbonic anhydrase VA deficiency). Usually, glutamine ...

... clinical trials are ongoing [ Richard et al 2020 ]. Pyruvate kinase activators (e.g., mitapivat, etavopivat) are in ... PubMed : 27183541 ] Cappellini MD. Long-term efficacy and safety of deferasirox. Blood Rev. 2008;22:S35-41. [ ...

... in basal ganglia / brain stem / medulla Leukodystrophy ↑ lactate, pyruvate Metabolic acidosis POLG -related disorders POLG AR Other ... atrophy Deafness-dystonia-optic neuronopathy syndrome TIMM8A XL Pyruvate carboxylase deficiency PC AR AD = autosomal dominant; AR = ...