Monoamines, pterines, or tetrahydrofolate are not useful as biomarkers for diagnosing mitochondrial disorders

Abstract

Keywords: Mitochondrial; mtDNA; Phenotype; Genotype; Myopathy; Muscle biopsy Letter to the Editor In a recent article Batllori et al. reported about a retrospective study of cerebrospinal fluid (CSF) concentrations of monoamines (homovanillic acid (HVA), 5-hydroxyindolacetic acid (5HIAA)), pterines (neopterin, biopterin), and 5-methyl-tetra-hydrofolate (5MTHF) in 29 patients with a genetically confirmed mitochondrial disorder (MID) [1]. The study showed that high HVA is associated with low folate levels in KSS but was otherwise in-conclusive [1]. We have the following comments and concerns.