Open AccessMonoamines, pterines, or tetrahydrofolate are not useful as biomarkers for diagnosing mitochondrial disorders
Author(s) -
Josef Finsterer,
Sinda ZarroukMahjoub
Publication year - 2019
Language(s) - English
DOI - 10.36811/irjo.2019.110002
Subject(s) - homovanillic acid , monoamine neurotransmitter , biopterin , cerebrospinal fluid , medicine , mitochondrial myopathy , mitochondrial disease , genotype , neopterin , endocrinology , mitochondrial dna , pathology , genetics , biology , serotonin , gene , tetrahydrobiopterin , nitric oxide synthase , receptor , nitric oxide
Keywords: Mitochondrial; mtDNA; Phenotype; Genotype; Myopathy; Muscle biopsyLetter to the EditorIn 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.