Technical and biochemical factors affecting cerebrospinal fluid 5-MTHF, biopterin and neopterin concentrations

Molecular Genetics and Metabolism

Volumn 95, Issue 3, 2008, Pages 127-132

  Verbeek, M M ^a   Blom, A M ^a   Wevers, R A ^a   Lagerwerf, A J ^a   van de Geer, J ^a   Willemsen, M A A P ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

5 MTHF; Biopterin; Cerebrospinal fluid; Folate; Neopterin

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; 5 METHYLTETRAHYDROFOLIC ACID; ASCORBIC ACID; BIOPTERIN; DITHIOTHREITOL; HOMOVANILLIC ACID; IODINE; MANGANESE OXIDE; NEOPTERIN; TRICHLOROACETIC ACID;

ADULT; ARTICLE; CEREBROSPINAL FLUID ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; OXIDATION; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL;

ADOLESCENT; BIOPTERIN; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; NEOPTERIN; NERVOUS SYSTEM DISEASES; SPECIMEN HANDLING; TETRAHYDROFOLATES;

EID: 53949095411     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.07.004     Document Type: Article

References (18)

1. Brautigam C., Wevers R.A., Jansen R.J., Smeitink J.A., de Rijk-van Andel J.F., Gabreels F.J., and Hoffmann G.F. Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin. Chem. 9 (1998) 1897-1904
2. Pons R., Ford B., Chiriboga C.A., Clayton P.T., Hinton V., Hyland K., Sharma R., and De V. Aromatic l-amino acid decarboxylase deficiency: clinical features treatment and prognosis. Neurology 7 (2004) 1058-1065
3. Blau N., Thony B., Cotton R.G.H., and Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Childs B., and Vogelstein B. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 1725-1776
4. Ramaekers V.T., and Blau N. Cerebral folate deficiency. Dev. Med. Child Neurol. 12 (2004) 843-851
5. Ramaekers V.T., Hansen S.I., Holm J., Opladen T., Senderek J., Hausler M., Heimann G., Fowler B., Maiwald R., and Blau N. Reduced folate transport to the CNS in female Rett patients. Neurology 4 (2003) 506-515
6. Blau N., Bonafe L., Krageloh-Mann I., Thony B., Kierat L., Hausler M., and Ramaekers V. Cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome: a new phenotype. Neurology 5 (2003) 642-647
7. Willemsen M.A., Wevers R.A., and Verbeek M.M. Cerebral folate deficiency syndrome. N. Engl. J. Med. 7 (2005) 740
8. Pineda M., Ormazabal A., Lopez-Gallardo E., Nascimento A., Solano A., Herrero M.D., Vilaseca M.A., Briones P., Ibanez L., Montoya J., and Artuch R. Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann. Neurol. 2 (2006) 394-398
9. Hyland K. The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. Ann. Neurol. (2003) S13-S17
10. Ormazabal A., Garcia-Cazorla A., Perez-Duenas B., Gonzalez V., Fernandez-Alvarez E., Pineda M., Campistol J., and Artuch R. Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population. Clin. Chim. Acta 1-2 (2006) 159-162
11. Niederwieser A., Staudenmann W., and Wetzel E. High-performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins. J. Chromatogr. (1984) 237-246
12. Hyland K., and Howells D.W. Analysis and clinical significance of pterins. J. Chromatogr. (1988) 95-121
13. Ormazabal A., Garcia-Cazorla A., Fernandez Y., Fernandez-Alvarez E., Campistol J., and Artuch R. HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins. J. Neurosci. Methods 1 (2005) 153-158
14. Abdo W.F., de Jong D., Hendriks J.C., Horstink M.W., Kremer B.P., Bloem B.R., and Verbeek M.M. Cerebrospinal fluid analysis differentiates multiple system atrophy from Parkinson's disease. Mov. Disord. 5 (2004) 571-579
15. Surtees R., Heales S., and Bowron A. Association of cerebrospinal fluid deficiency of 5-methyltetrahydrofolate but not S-adenosylmethionine with reduced concentrations of the acid metabolites of 5-hydroxytryptamine and dopamine. Clin. Sci. (Lond.) 6 (1994) 697-702
16. Kaufman S. Some metabolic relationships between biopterin and folate: implications for the "methyl trap hypothesis". Neurochem. Res. 9 (1991) 1031-1036
17. Komori H., Matsuishi T., Yamada S., Ueda N., Yamashita Y., and Kato H. Effect of age on cerebrospinal fluid levels of metabolites of biopterin and biogenic amines. Acta Paediatr. 12 (1999) 1344-1347
18. Hyland K., Surtees R.A., Heales S.J., Bowron A., Howells D.W., and Smith I. Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population. Pediatr. Res. 1 (1993) 10-14