Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening
| Autor: | Hisanaga Kuroki, Hironori Kobayashi, Hidekazu Tanaka, Yuko Emoto, Ko Okamura, Kana Sugimoto, Norio Sakai, Tatsuya Tanaka, Ryoji Matoba, Takuma Yamamoto, Masato Nakatome, Seiji Yamaguchi |
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| Rok vydání: | 2010 |
| Předmět: |
Child abuse
Male medicine.medical_specialty Pediatrics Endocrinology Diabetes and Metabolism Mutation Missense Carnitine-acylcarnitine translocase Autopsy Biochemistry Endocrinology Neonatal Screening Japan Multienzyme Complexes Internal medicine Carnitine Genetics medicine Carnitine palmitoyltransferase II Humans Molecular Biology Retrospective Studies Newborn screening biology Carnitine O-Palmitoyltransferase Mitochondrial Trifunctional Protein Acyl-CoA Dehydrogenase Long-Chain Infant Newborn Acyl CoA dehydrogenase Infant Sudden infant death syndrome medicine.disease Carnitine Acyltransferases Haplotypes Liver Case-Control Studies biology.protein Female Carnitine palmitoyltransferase II deficiency Sudden Infant Death |
| Zdroj: | Molecular genetics and metabolism. 102(4) |
| ISSN: | 1096-7206 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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