title: Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.
abstract: To assess the etiology of influenza-associated encephalopathy (IAE), a surveillance effort was conducted during 2000-2003 in South-West Japan. All fatal and handicapped patients except one (4/34 patients) exhibited a disorder of mitochondrial beta-oxidation evoked by the inactivated carnitine palmitoyltransferase II (CPT II) with transiently elevated serum acylcarnitine ratios (C(16:0) + C(18:1))/C(2) > 0.09 during high-grade fever. Analyses of genotypes and allele compositions of CPT II revealed a thermolabile phenotype of compound heterozygotes for [1055T > G/F352C] and [1102G > A/V368I], which shows a higher frequency in IAE patients than healthy volunteers (P < 0.025). The thermolabile phenotype of CPT II variations may be a principal genetic background of IAE in Japanese.
authors.affiliation: Division of Enzyme Chemistry, Institute for Enzyme Research, The University of Tokushima, Tokushima 770-8503, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Chen
authors.forename: H
authors.initials: H
authors.lastname: Mizuguchi
authors.forename: D
authors.initials: D
authors.lastname: Yao
authors.forename: M
authors.initials: M
authors.lastname: Ide
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
authors.forename: Y
authors.initials: Y
authors.lastname: Shigematsu
authors.forename: S
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: M
authors.initials: M
authors.lastname: Yamaguchi
authors.forename: M
authors.initials: M
authors.lastname: Kinoshita
authors.forename: H
authors.initials: H
authors.lastname: Kido
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002334:Carnitine O-Palmitoyltransferase / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers; D018792:Encephalitis, Viral / Q000150:complications / Q000201:enzymology*; D004795:Enzyme Stability; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007251:Influenza, Human / Q000150:complications*; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: D017931:DNA Primers; D002334:Carnitine O-Palmitoyltransferase