title: Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening.
abstract: Sudden unexpected death in infancy is defined as sudden unexpected death occurring before 12 months of age. The common causes of sudden unexpected death in infancy are infection, cardiovascular anomaly, child abuse, and metabolic disorders. However, the many potential inherited metabolic disorders are difficult to diagnose at autopsy and may therefore be underdiagnosed as a cause of sudden unexpected death in infancy. In the present study we retrospectively reviewed 30 Japanese sudden unexpected death in infancy cases encountered between 2006 and 2009 at our institute. With postmortem blood acylcarnitine analysis and histological examination of the liver, we found two cases of long-chain fatty acid oxidation defects. Molecular analysis revealed that the one patient had a compound heterozygote for a novel mutation (p.L644S) and a disease-causing mutation (p.F383Y) in the carnitine palmitoyltransferase 2 gene. Furthermore, retrospective acylcarnitine analysis of the newborn screening card of this patient was consistent with carnitine palmitoyltransferase II deficiency. Metabolic autopsy and expanded newborn screening would be helpful for forensic scientists and pediatricians to diagnose fatty acid oxidation disorders and prevent sudden unexpected death in infancy.
authors.affiliation: Department of Legal Medicine, Osaka University Graduate School of Medicine, 2-2 Yamada-Oka, Suita, Osaka 565-0871, Japan.
authors.forename: Takuma
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Hidekazu
authors.initials: H
authors.lastname: Tanaka
authors.forename: Hironori
authors.initials: H
authors.lastname: Kobayashi
authors.forename: Ko
authors.initials: K
authors.lastname: Okamura
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Tanaka
authors.forename: Yuko
authors.initials: Y
authors.lastname: Emoto
authors.forename: Kana
authors.initials: K
authors.lastname: Sugimoto
authors.forename: Masato
authors.initials: M
authors.lastname: Nakatome
authors.forename: Norio
authors.initials: N
authors.lastname: Sakai
authors.forename: Hisanaga
authors.initials: H
authors.lastname: Kuroki
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Ryoji
authors.initials: R
authors.lastname: Matoba
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000235:genetics; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D002333:Carnitine Acyltransferases / Q000235:genetics; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007564:Japan; D008099:Liver / Q000473:pathology; D008297:Male; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000235:genetics; D020125:Mutation, Missense; D015997:Neonatal Screening / Q000379:methods*; D012189:Retrospective Studies; D013398:Sudden Infant Death / Q000453:epidemiology* / Q000209:etiology
chemical_list: D009097:Multienzyme Complexes; C116917:acylcarnitine; D044942:Acyl-CoA Dehydrogenase, Long-Chain; C467805:ACADVL protein, human; D002333:Carnitine Acyltransferases; D063991:Mitochondrial Trifunctional Protein; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine