Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children

Brain and Development

Volumn 34, Issue 1, 2012, Pages 20-27

  Kubota, Masaya ^a,b   Chida, Junji ^c   Hoshino, Hideki ^a   Ozawa, Hiroshi ^b   Koide, Ayaka ^b   Kashii, Hirohumi ^a,b   Koyama, Akiko ^a   Mizuno, Yoko ^b   Hoshino, Ai ^b   Yamaguchi, Miyoko ^c   Yao, Dengbing ^c   Yao, Min ^c   Kido, Hiroshi ^c  

^a NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b Tokyo Metropolitan Hachioji Children's Hospital   (Japan)

^c UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

Acute encephalopathy

Indexed keywords

ADENOSINE TRIPHOSPHATE; ADRENALIN; CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE II; CEFOTAXIME; DOPAMINE; GENOMIC DNA; GLYCEROL; IMMUNOGLOBULIN; MANNITOL; METHYLPREDNISOLONE; MIDAZOLAM; PENTOBARBITAL; PHENOBARBITAL; UNCLASSIFIED DRUG;

ACUTE BRAIN DISEASE; ARTICLE; BLOOD BRAIN BARRIER; BRAIN EDEMA; CHILD; CLINICAL ARTICLE; COMA; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CONVALESCENCE; DEATH; DISEASE COURSE; DISEASE SEVERITY; EVOKED BRAIN STEM AUDITORY RESPONSE; FEBRILE CONVULSION; FEMALE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; HUMAN HERPESVIRUS 6; INFANT; INFLUENZA ASSOCIATED ENCEPHALOPATHY; INTENSIVE CARE; JAPANESE; MALE; MITOCHONDRIAL ENCEPHALOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SEIZURE; SEPTIC ENCEPHALOPATHY; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SUBARACHNOID HEMORRHAGE; VIRAL ENCEPHALOPATHY;

ADENOSINE TRIPHOSPHATE; CARNITINE O-PALMITOYLTRANSFERASE; CHILD; CHILD, PRESCHOOL; ENCEPHALITIS, VIRAL; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; JAPAN; LUMINESCENT MEASUREMENTS; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 83955164311     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2010.12.012     Document Type: Article

References (21)

1. Belay E.D., Bresee J.S., Holman R.C., Khan A.S., Shahriari A., Schonberger L.B. Reye's syndrome in the United States from 1981 through 1997. N Engl J Med 1999, 340:1377-1382.
2. Morishima T., Togashi T., Yokota S., Okuno Y., Miyazaki C., Tashiro M., et al. Collaborative study group on influenza-associated encephalopathy in Japan. Encephalitis and encephalopathy associated with an influenza epidemic in Japan. Clin Infect Dis 2002, 35:512-517.
3. Mizuguchi M., Abe J., Mikkaichi K., Noma S., Yoshida K., Yamanaka T., et al. Acute necrotising encephalopathy of childhood: a new syndrome presenting with multifocal, symmetric brain lesions. J Neurol Neurosurg Psychiatry 1995, 58:555-561.
4. Takanashi J., Oba H., Barkovich A.J., Tada H., Tanabe Y., Yamanouchi H., et al. Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy. Neurology 2006, 66:1304-1309.
5. Levin M., Hjelm M., Kay J.D., Pincott J.R., Gould J.D., Dinwiddie R., et al. Haemorrhagic shock and encephalopathy: a new syndrome with a high mortality in young children. Lancet 1983, 2(8341):64-67.
6. Levin M., Pincott J.R., Hjelm M., Taylor F., Kay J., Holzel H., et al. Hemorrhagic shock and encephalopathy: clinical, pathologic, and biochemical features. J Pediatr 1989, 114:194-203.
7. Mizuguchi M., Yamanouchi H., Ichiyama T., Shiomi M. Acute encephalopathy associated with influenza and other viral infections. Acta neurol Scand 2007, 115(Suppl. 4):45-56.
8. Sugaya N. Influenza-associated encephalopathy in Japan: pathogenesis and treatment. Pediatr Int 2000, 42:215-218.
9. Kasai T., Togashi T., Morishima T. Encephalopathy associated with influenza epidemics. Lancet 2000, 355(9214):1558-1559.
10. Ichiyama T., Suenaga N., Kajimoto M., Tohyama J., Isumi H., Kubota M., et al. Serum and CSF levels of cytokines in acute encephalopathy following prolonged febrile seizures. Brain Dev 2008, 30:47-52.
11. Yokota S., Imagawa T., Miyamae T., Ito S., Nakajima S., Nezu A., et al. Hypothetical pathophysiology of acute encephalopathy and encephalitis related to influenza virus infection and hypothermia therapy. Pediatr Int 2000, 42:197-203.
12. Chen Y., Mizuguchi H., Yao D., Ide M., Kuroda Y., Shigematsu Y., et al. Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy. FEBS Lett 2005, 579:2040-2044.
13. Bonnefont J.P., Djouadi F., Prip-Buus C., Gobin S., Munnich A., Bastin J. Carnitine palmitoyltransferase 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 2004, 25:495-520.
14. Yao D., Mizuguchi H., Yamaguchi M., Yamada H., Chida J., Shikata K., et al. Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. Hum Mutat 2008, 29:718-727.
15. Fukao T., Mitchell G.A., Song X.Q., Nakamura H., Kassovska-Bratinova S., Orii K.E., et al. Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. Genomics 2000, 68:144-151.
16. Pytel P., Alexander J.J. Pathogenesis of septic encephalopathy. Curr Opin Neurol 2009, 22:283-287.
17. Wataya K., Akanuma J., Cavadini P., Aoki Y., Kure S., Invernizzi F., et al. Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. Hum Mutat 1998, 11:377-386.
18. Gellera C., Verderio E., Floridia G., Finocchiaro G., Montermini L., Cavadini P., et al. Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32. Genomics 1994, 24:195-197.
19. Olpin S.E., Afifi A., Clark S., Manning N.J., Bonham J.R., Dalton A., et al. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. J Inherit Metab Dis 2003, 26:543-557.
20. Oldendorf W.H., Cornford M.E., Brown W.J. The large apparent work capability of the blood-brain barrier: a study of the mitochondrial content of capillary endothelial cells in brain and other tissues of the rat. Ann Neurol 1977, 1:409-417.
21. Witt K.A., Mark K.S., Hom S., Davis T.P. Effects of hypoxia-reoxygenation on rat blood-brain barrier permeability and tight junctional protein expression. Am J Physiol Heart Circ Physiol 2003, 285:2820-2831.