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

Josef Finsterer | Zendy; Sinda ZarroukMahjoub | Zendy

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Monoamines, 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.

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