Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC

Batllori, Marta; Molero-Luís, Marta; Ormazábal, Aída; Casado, Mercedes; Sierra, Cristina; García‐Cazorla, Àngels; Kurian, Manju A.; Pope, Simon; Heales, Simon; Artuch, Rafael

doi:10.1038/nprot.2017.103

Cited by 30 publications

(28 citation statements)

References 26 publications

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“…As CSF is often also taken for measurement of other analytes, such as monoamine metabolites and pterins, it makes sense to have a consistent sample collection protocol, which takes account of potential rostro-caudal gradients and stability of each of these analyses. 35 In the future, LC-MS methods measuring a wider variety of folate species should be more readily available in diagnostic laboratories, allowing quicker and more detailed identification of defects in folate metabolism and transport. 118 Other measures of one-carbon metabolism in tandem with folate measurement in CSF have been described.…”

Section: Analytical Methods For Assessment Of Folate Statusmentioning

confidence: 99%

Cerebral folate deficiency: Analytical tests and differential diagnosis

Pope

Artuch

Heales

et al. 2019

J of Inher Metab Disea

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Cerebral folate deficiency is typically defined as a deficiency of the major folate species 5‐methyltetrahydrofolate in the cerebrospinal fluid (CSF) in the presence of normal peripheral total folate levels. However, it should be noted that cerebral folate deficiency is also often used to describe conditions where CSF 5‐MTHF is low, in the presence of low or undefined peripheral folate levels. Known defects of folate transport are deficiency of the proton coupled folate transporter, associated with systemic as well as cerebral folate deficiency, and deficiency of the folate receptor alpha, leading to an isolated cerebral folate deficiency associated with intractable seizures, developmental delay and/or regression, progressive ataxia and choreoathetoid movement disorders. Inborn errors of folate metabolism include deficiencies of the enzymes methylenetetrahydrofolate reductase, dihydrofolate reductase and 5,10‐methenyltetrahydrofolate synthetase. Cerebral folate deficiency is potentially a treatable condition and so prompt recognition of these inborn errors and initiation of appropriate therapy is of paramount importance. Secondary cerebral folate deficiency may be observed in other inherited metabolic diseases, including disorders of the mitochondrial oxidative phosphorylation system, serine deficiency, and pyridoxine dependent epilepsy. Other secondary causes of cerebral folate deficiency include the effects of drugs, immune response activation, toxic insults and oxidative stress. This review describes the absorption, transport and metabolism of folate within the body; analytical methods to measure folate species in blood, plasma and CSF; inherited and acquired causes of cerebral folate deficiency; and possible treatment options in those patients found to have cerebral folate deficiency.

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Section: Analytical Methods For Assessment Of Folate Statusmentioning

confidence: 99%

Cerebral folate deficiency: Analytical tests and differential diagnosis

Pope

Artuch

Heales

et al. 2019

J of Inher Metab Disea

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“…Nevertheless, as these compounds are very easy to oxidize, a careful sample collection and storage is absolutely required. In 2017, [39] published a method for the determination of HVA, 5-HIAA, 3-OMD, and MHPG in CSF without the need for time-consuming pre-processing of the samples. Here, CSF freshly frozen at bedside without blood contaminations is directly diluted in the mobile phase, shortly centrifuged, and filtered through a nylon filter to remove greater particles and contaminants.…”

Section: Diagnostic Methodsmentioning

confidence: 99%

“…In 2017, ref. [39] published a protocol, allowing for the determination of BH 4 and other pterins (besides catecholamines and derivates) in CSF without the need for complex pre-preparation steps using HPLC coupled to coulometric and fluorescence detection. Mass spectrometry is also applied to quantify pterin levels in the samples, as it allows for the specific identification of the compounds.…”

Section: Diagnostic Methodsmentioning

confidence: 99%

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Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future

Jung-Klawitter

Hübschmann

2019

Cells

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Inborn errors of monoamine neurotransmitter biosynthesis and degradation belong to the rare inborn errors of metabolism. They are caused by monogenic variants in the genes encoding the proteins involved in (1) neurotransmitter biosynthesis (like tyrosine hydroxylase (TH) and aromatic amino acid decarboxylase (AADC)), (2) in tetrahydrobiopterin (BH4) cofactor biosynthesis (GTP cyclohydrolase 1 (GTPCH), 6-pyruvoyl-tetrahydropterin synthase (PTPS), sepiapterin reductase (SPR)) and recycling (pterin-4a-carbinolamine dehydratase (PCD), dihydropteridine reductase (DHPR)), or (3) in co-chaperones (DNAJC12). Clinically, they present early during childhood with a lack of monoamine neurotransmitters, especially dopamine and its products norepinephrine and epinephrine. Classical symptoms include autonomous dysregulations, hypotonia, movement disorders, and developmental delay. Therapy is predominantly based on supplementation of missing cofactors or neurotransmitter precursors. However, diagnosis is difficult and is predominantly based on quantitative detection of neurotransmitters, cofactors, and precursors in cerebrospinal fluid (CSF), urine, and blood. This review aims at summarizing the diverse analytical tools routinely used for diagnosis to determine quantitatively the amounts of neurotransmitters and cofactors in the different types of samples used to identify patients suffering from these rare diseases.

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“…The early detection of abnormal concentration levels of these neurotransmitters may help in the diagnosing of major diseases. Generally, DA and 5‐HT are analyzed in urine and blood samples by chromatographic procedures, for example high performance liquid chromatography (HPLC) or gas chromatography (GC) . Since DA and 5‐HT are electrochemically active, this work reports an electroanalytical method for their detection, which is more selective and sensitive than chromatographic techniques.…”

Section: Introductionmentioning

confidence: 99%

Artificial Neural Networks for the Resolution of Dopamine and Serotonin Complex Mixtures Using a Graphene‐Modified Carbon Electrode

2019

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This work explores an electrode modified with electrochemically reduced graphene oxide (ERGO) for the voltammetric resolution of mixtures of neurotransmitters and its most common interferents. This enhanced sensitivity device coupled with advanced chemometric tools, such as artificial neural networks (ANNs), is able to resolve and quantify complex mixtures with overlapped signals. In this case, it has been applied to dopamine (DA), serotonin (5‐hydroxytryptamine, 5‐HT) and its main physiologic interferents, ascorbic acid (AA) and uric acid (UA), which play a relevant role in human body. The results obtained for individual analysis make evident a higher sensitivity of the developed sensor than the unmodified electrode. Furthermore, it has been attained an ANN response model with good correlation ability allowing the separation and quantification of each compound with comparison slope of predicted vs. expected concentrations with correlation better than 0.974. In short, the developed ERGO‐modified sensor not only improved the signal but it also permitted resolving and quantifying each compound in complex mixtures when the proper chemometric treatment was used.

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Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC

Cited by 30 publications

References 26 publications

Cerebral folate deficiency: Analytical tests and differential diagnosis

Cerebral folate deficiency: Analytical tests and differential diagnosis

Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future

Artificial Neural Networks for the Resolution of Dopamine and Serotonin Complex Mixtures Using a Graphene‐Modified Carbon Electrode

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