Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population

Clinica Chimica Acta; International Journal of Clinical Chemistry
Aida OrmazabalR Artuch

Abstract

Cerebral folate deficiency (CFD) has been described as a neurological syndrome associated with low 5-methyltetrahydrofolate (5-MTHF) values in cerebrospinal fluid (CSF) with normal folate concentrations in plasma. Our aim was to analyse CSF 5-MTHF concentrations in a paediatric control population and in patients with various neurological disorders. We studied plasma and CSF samples from 63 paediatric controls (age range: 2 days to 18 years, average: 3.8 years) and from 165 patients (age range: 1 day to 22 years, average: 5.0 years) with severe epileptic encephalopathies of unknown origin, movement disorders, Rett syndrome and mitochondrial diseases. CSF 5-methyltetrahydrofolate was analysed by reverse phase HPLC with fluorescence detection (excitation: 295 nm and emission: 355 nm). A negative correlation between 5-MTHF values and age of controls was observed (r=-0.468; p<0.0001) and reference values were therefore stratified into 3 age groups. Regarding patients, 122 out of 165 showed normal CSF 5-MTHF values while 43 showed decreased values ranging from profound to mild deficiencies. Increased CSF total protein values were associated with the presence of low 5-MTHF concentrations (chi(2)=7.796; p=0.005). The application of thi...Continue Reading

Citations

Sep 22, 2010·Journal of Inherited Metabolic Disease·Belén Pérez-DueñasRafael Artuch
May 17, 2011·Annual Review of Nutrition·Rongbao ZhaoI David Goldman
Jan 6, 2010·Journal of Inherited Metabolic Disease·Angela SempereJaume Campistol
Jul 28, 2012·Drug Discovery Today·Mercedes SerranoRafael Artuch
Mar 15, 2011·Clinical Biochemistry·Aida OrmazábalRafael Artuch
Aug 30, 2008·Molecular Genetics and Metabolism·M M VerbeekM A A P Willemsen
Nov 21, 2007·Pediatric Neurology·Aleksandra Djukic
Mar 15, 2016·Neuropharmacology·Per-Ola Freskgård, Eduard Urich
Dec 19, 2007·Journal of Neurochemistry·Jan B WollackBarton Kamen
Dec 30, 2014·Orphanet Journal of Rare Diseases·Pilar Quijada-FraileRafael Artuch
Jul 2, 2016·Clinica Chimica Acta; International Journal of Clinical Chemistry·Mari AkiyamaKatsuhiro Kobayashi
Sep 24, 2009·Journal of Child Neurology·John ShoffnerKeith Hyland
Oct 28, 2019·Neurogenetics·Paula GaudóMaría Pilar Bayona-Bafaluy
May 6, 2015·Clinical Chemistry and Laboratory Medicine : CCLM·Tomoyuki AkiyamaHarumi Yoshinaga
Jun 21, 2015·Expert Review of Neurotherapeutics·Marta Molero-LuisRafael Artuch
Mar 27, 2010·Sleep·Smaranda Leu-SemenescuEmmanuel Roze
Mar 28, 2019·Journal of Inherited Metabolic Disease·Simon PopeShamima Rahman
Nov 16, 2019·Fluids and Barriers of the CNS·Marta BatlloriRafael Artuch

❮ Previous
Next ❯

Related Concepts

Related Feeds

Bacterial Meningitis (ASM)

Bacterial meningitis continues to be an important cause of mortality and morbidity throughout the world. Here is the latest research.

Bacterial Meningitis

Bacterial meningitis continues to be an important cause of mortality and morbidity throughout the world. Here is the latest research.