Diagnostic accuracy of blood and CSF lactate in identifying children with mitochondrial diseases affecting the central nervous system

Brain and Development

Volumn 34, Issue 2, 2012, Pages 92-97

  Yamada, Keitaro ^a   Toribe, Yasuhisa ^a   Yanagihara, Keiko ^a   Mano, Toshiyuki ^a   Akagi, Mikihiro ^b   Suzuki, Yasuhiro ^a  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Cerebrospinal fluid; Children; Lactate; Mitochondrial disorders; Pyruvate

Indexed keywords

LACTIC ACID; PYRUVIC ACID;

AREA UNDER THE CURVE; ARTICLE; BLOOD ANALYSIS; BLOOD SAMPLING; CENTRAL NERVOUS SYSTEM; CEREBROSPINAL FLUID ANALYSIS; CHILD; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; HUMAN; INFANT; LACTATE DEHYDROGENASE BLOOD LEVEL; LEIGH ENCEPHALOMYELOPATHY; MAJOR CLINICAL STUDY; MALE; MELAS SYNDROME; PEARSON DISEASE; RECEIVER OPERATING CHARACTERISTIC; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; AREA UNDER CURVE; CENTRAL NERVOUS SYSTEM DISEASES; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; LACTIC ACID; MALE; MITOCHONDRIAL DISEASES; PYRUVIC ACID; ROC CURVE;

EID: 84855609230     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.08.004     Document Type: Article

References (15)

1. Chariot P., Ratiney R., Ammi-Said M., Hérigault R., Adnot S., Gherardi R. Optimal handling of blood samples for routine measurement of lactate and pyruvate. Arch Pathol Lab Med 1994, 118:695-697.
2. Hutchesson A., Preece M.A., Gray G., Green A. Measurement of lactate in cerebrospinal fluid in investigation of inherited metabolic disease. Clin Chem 1997, 43:158-161.
3. Touati G., Rigal O., Lombès A., Frachon P., Giraud M., Ogier de Baulny H. In vivo functional investigations of lactic acid in patients with respiratory chain disorders. Arch Dis Child 1997, 76:16-21.
4. Finsterer J. Cerebrospinal-fluid lactate in adult mitochondriopathy with and without encephalopathy. Acta Med Austriaca 2001, 28:152-155.
5. Chow S.L., Rooney Z.J., Cleary M.A., Clayton P.T., Leonard J.V. The significance of elevated CSF lactate. Arch Dis Child 2005, 90:1188-1189.
6. Stacpoole P.W., Bunch S.T., Neiberger R.E., Perkins L.A., Quisling R., Hutson A.D., et al. The importance of cerebrospinal fluid lactate in the evaluation of congenital lactic acidosis. J Pediatr 1999, 134:99-102.
7. Debray F.G., Lambert M., Chevalier I., Robitaille Y., Decarie J.C., Shoubridge E.A., et al. Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics 2007, 119:722-733.
8. Jackson M.J., Schaefer J.A., Johnson M.A., Morris A.A., Turnbull D.M., Bindoff L.A. Presentation and clinical investigation of mitochondrial respiratory chain disease; a study of 51 patients. Brain 1995, 118:339-357.
9. Hanley J.A., McNeil B.J. The meaning and use of the area under a receiver operating characteristic curve. Radiology 1982, 143:29-36.
10. Metz C.E. Basic principles of ROC curve analysis. Semin Nucl Med 1978, 8:283-298.
11. Altman D.G., Gardner M. Diagnostics tests 2000, BMJ Book, London. 2nd ed.
12. Matsuishi T., Urabe F., Komori H., Yamashita Y., Naito E., Kuroda Y., et al. The Rett syndrome and CSF lactic acid patterns. Brain Dev 1992, 14:68-70.
13. Debray F.G., Mitchell G.A., Allard P., Robinson R.H., Hanley J.A., Lambert M. Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. Clin Chem 2007, 53:916-921.
14. Posner J.B., Plum F. Independence of blood and cerebrospinal fluid lactate. Arch Neurol 1967, 16:492-496.
15. Smeitink J.A. Mitochondrial disorders: clinical presentation and diagnostic dilemmas. J Inherit Metab Dis 2003, 26:199-207.