Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency

Clinical Biochemistry

Volumn 44, Issue 8-9, 2011, Pages 719-721

  Ormazábal, Aida ^a,d   Perez Dueñas, Belén ^a,d   Sierra, Cristina ^b   Urreitzi, Roser ^c,d   Montoya, Julio ^a,d   Serrano, Mercedes ^a,d   Campistol, Jaume ^a,d   García Cazorla, Angels ^a,d   Pineda, Mercé ^a,d   Artuch, Rafael ^a,d  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c UNIVERSITY OF ZARAGOZA   (Spain)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

5 Methyltetrahydrofolate; Cerebral folate deficiency; Cerebrospinal fluid; Folate; Kearns Sayre syndrome

Indexed keywords

FOLIC ACID;

ADOLESCENT; ADULT; ARTICLE; BLOOD SAMPLING; CENTRAL NERVOUS SYSTEM DISEASE; CEREBROSPINAL FLUID ANALYSIS; CEREBROSPINAL FLUID LEVEL; CHILD; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DRUG TRANSPORT; FEMALE; FOLIC ACID BLOOD LEVEL; FOLIC ACID DEFICIENCY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; VITAMIN METABOLISM;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; FOLIC ACID; FOLIC ACID DEFICIENCY; HUMANS; INFANT; INFANT, NEWBORN; MALE; NERVOUS SYSTEM DISEASES; YOUNG ADULT;

EID: 79955798698     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2011.03.002     Document Type: Article

References (10)

1. Ramaekers V.T., Blau N. Cerebral folate deficiency. Dev. Med. Child Neurol. 2004, 46:843-851.
2. Ramaekers V.T., Rothenberg S.P., Sequeira J.M., Opladen T., Blau N., Quadros E.V., et al. Autoantibodies to folate receptors in the cerebral folate deficiency syndrome. N. Engl. J. Med. 2005, 352:1985-1991.
3. Molloy A.M., Quadros E.V., Sequeira J.M., Troendle J.F., Scott J.M., Kirke P.N., et al. Lack of association between folate-receptor autoantibodies and neural-tube defects. N. Eng. J. Med. 2009, 361:152-160.
4. Steinfeld R., Grapp M., Kraetzner R., Dreha-Kulaczewski S., Helms G., Dechent P., et al. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am. J. Hum. Genet. 2009, 85:354-363.
5. Serrano M., García-Silva M.T., Martin-Hernandez E., O'Callaghan M.M., Quijada P., Martinez-Aragon A., et al. Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. Mitochondrion 2010, 10:429-432.
6. Garcia-Cazorla A., Quadros E.V., Nascimento A., Garcia-Silva M.T., Briones P., Montoya J., et al. Mitochondrial diseases associated with cerebral folate deficiency. Neurology 2008, 70:1360-1362.
7. Moretti P., Peters S.U., Del Gaudio D., Sahho T., Hyland K., Bottiglieri T., et al. Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J. Autism Dev. Disord. 2008, 38:1170-1177.
8. Ormazabal A., García-Cazorla A., Pérez-Dueñas B., Gonzalez V., Fernández-Alvarez E., Pineda M., et al. Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population. Clin. Chim. Acta 2006, 371:159-162.
9. Urreizti R., Moya-García A.A., Pino-Ángeles A., Cozar M., Langkilde A., Fanhoe U., et al. Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. Clin. Genet. 2010, 78:441-448.
10. Tanji K., Schon E.A., DiMauro S., Bonilla E. Kearns-Sayre syndrome: oncocytic transformation of choroid plexus epithelium. J. Neurol. Sci. 2000, 178:29-36.