Metabolic autopsy with postmortem cultured fibroblasts in sudden unexpected death in infancy: Diagnosis of mitochondrial respiratory chain disorders

Article ID	Journal	Published Year	Pages	File Type
10833691	Molecular Genetics and Metabolism	2012	4 Pages	PDF

Abstract

âº There are few reports regarding the relationship between MRC disorders and SUDI. âº We performed metabolic autopsy in 13 Japanese cases of SUDI. âº We detected one case of MRC disorders with postmortem cultured fibroblasts. âº MRC disorders are one of the important inherited metabolic disorders causing SUDI. âº We advocate metabolic autopsy with postmortem cultured fibroblasts.

Keywords

OXPHOS MRC SIDS SUDI Mitochondrial respiratory chain disorders Citrate synthetase Fatty acid oxidation disorders Mitochondrial respiratory chain Sudden Infant Death Syndrome Oxidative phosphorylation Sudden unexpected death in infancy