Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders

Developmental Medicine and Child Neurology

Volumn 55, Issue 6, 2013, Pages 559-566

  Molero Luis, Marta ^a   Serrano, Mercedes ^a   Ormazábal, Aida ^a   Pérez Dueñas, Belén ^a   García Cazorla, Àngels ^a   Pons, Roser ^b   Artuch, Rafael ^a  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b UNIVERSITY OF ATHENS   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; 5 METHYLTETRAHYDROFOLIC ACID; HOMOVANILLIC ACID; PROLACTIN;

ADOLESCENT; ARTICLE; CENTRAL NERVOUS SYSTEM INFECTION; CEREBELLUM HYPOPLASIA; CEREBROSPINAL FLUID ANALYSIS; CEREBROSPINAL FLUID LEVEL; CHILD; CHILDHOOD DISEASE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DOPAMINERGIC SYSTEM; ELECTROENCEPHALOGRAPHY; FEMALE; GENETIC DISORDER; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; NEUROLOGIC DISEASE; NEWBORN; PERINATAL ASPHYXIA; PONTOCEREBELLAR HYPOPLASIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROLACTIN BLOOD LEVEL; SCHOOL CHILD; WHITE MATTER LESION;

ADOLESCENT; ALGORITHMS; ASPHYXIA NEONATORUM; BRAIN; CENTRAL NERVOUS SYSTEM INFECTIONS; CHILD; CHILD, PRESCHOOL; DOPAMINE; FEMALE; HOMOVANILLIC ACID; HUMANS; INFANT; INFANT, NEWBORN; INTERNATIONALITY; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL DISEASES; NERVOUS SYSTEM DISEASES; OLIVOPONTOCEREBELLAR ATROPHIES; SAMPLING STUDIES;

EID: 84876867083     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12116     Document Type: Article

References (26)

1. Hyland K. Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid. Clin Chem 2008; 54: 633-41.
2. Marín-Valencia I, Serrano M, Ormazabal A, et al. Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines. Clin Biochem 2008; 41: 1306-15.
3. Kurian MA, Gissen P, Smith M, Heales SJ, Clayton PT. The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. Lancet Neurol 2011; 10: 721-33.
4. Kurian MA, Li Y, Zhen J, et al. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol 2011; 10: 54-62.
5. Van Der Heyden JC, Rotteveel JJ, Wevers RA. Decreased homovanillic acid concentrations in cerebrospinal fluid in children without a known defect in dopamine metabolism. Eur J Paediatr Neurol 2003; 7: 31-7.
6. Serrano M, Ormazábal A, Pérez-Dueñas B, et al. Perinatal asphyxia may cause reduction in CSF dopamine metabolite concentrations. Neurology 2007; 17: 311-3.
7. García-Cazorla A, Serrano M, Pérez-Dueñas B, et al. Secondary abnormalities of neurotransmitters in infants with neurological disorders. Dev Med Child Neurol 2007; 49: 740-4.
8. García-Cazorla A, Duarte S, Serrano M, et al. Mitochondrial diseases mimicking neurotransmitter defects. Mitochondrion 2008; 8: 273-8.
9. Serrano M, Pérez-Dueñas B, Ormazábal A, et al. Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks. Mov Disord 2008; 23: 1297-300.
10. Ormazabal A, García-Cazorla A, Fernández Y, Fernández-Álvarez E, Campistol J, Artuch R. HPLC with electrochemical and fluorescent detection procedures for the diagnosis of inborn errors of biogenic amines and pterins. J Neurosci Meth 2005; 142: 153-8.
11. Peaston RT, Weinkove C. Measurement of catecholamines and their metabolites. Ann Clin Biochem 2004; 41: 17-38.
12. Mashige F, Matsushima Y, Kanazawa H, et al. Acidic catecholamine metabolites and 5-hydroxyindoleacetic acid in urine: the influence of diet. Ann Clin Biochem 1996; 33: 43-9.
13. Arrabal L, Teresa L, Sánchez-Alcudia R, et al. Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. Neurogenetics 2011; 12: 183-91.
14. López-Laso E, Ochoa-Sepúlveda J, Ochoa-Amor J, et al. Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain). J Neurol 2009; 256: 1816-24.
15. Ormazabal A, Serrano M, Garcia-Cazorla A, et al. Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. Mov Disord 2011; 26: 1558-60.
16. Pons R, Serrano M, Ormazabal A, et al. Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. Mov Disord 2010; 25: 1086-90.
17. Ribasés M, Serrano M, Fernández-Alvarez E, et al. A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. Mol Genet Metab 2007; 92: 274-7.
18. Ruiz A, García-Villoria J, Ormazabal A, et al. A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency. Mol Genet Metab 2008; 93: 216-8.
19. Blau N, Bonafé L, Blaskovics ME. Disorders of phenylalanine and tetrahydrobiopterin metabolism. In: Blau N, Duran M, Blaskovics ME, Gibson K, editors. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. Berlin, Heidelberg, New York: Springer, 2003: 89-106.
20. Serrano M, García-Silva MT, Martin-Hernandez E, et al. Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. Mitochondrion 2010; 10: 429-32.
21. De Grandis E, Serrano M, Pérez-Dueñas B, et al. Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders. J Inherit Metab Dis 2010; 33: 803-9.
22. Devinsky O, Emoto S, Goldstein DS, et al. Cerebrospinal fluid and serum levels of DOPA, catechols, and monoamine metabolites in patients with epilepsy. Epilepsia 1992; 33: 263-70.
23. Duarte S, Sanmarti F, Gonzalez V, et al. Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies. Brain Dev 2008; 30: 106-11.
24. Surtees R, Heales S, 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) 1994; 86: 697-702.
25. Pons R, Ford B, Chiriboga C, et al. Aromatic l-amino acid decarboxylase deficiency: Clinical features, treatment, and prognosis. Neurology 2004; 62: 1058-65.
26. Hyland K, Surtees RA, Heales SJ, Bowron A, Howels D, Smith I. Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a paediatric reference population. Pediatr Res 1993; 34: 10-4.