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Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis.
- Source :
-
Forensic science international [Forensic Sci Int] 2014 Nov; Vol. 244, pp. e34-7. Date of Electronic Publication: 2014 Sep 06. - Publication Year :
- 2014
-
Abstract
- Case History: A 3-month-old infant was found dead in his bed. A postmortem computed tomography (CT) scan suggested fatty attenuation in the liver parenchyma, but no other potentially fatal changes were found. To clarify the cause of death, a medicolegal autopsy was carried out.<br />Autopsy Findings: Internal examination confirmed the presence of liver steatosis as well as hepatomegaly. There were no other significant findings including encephalitis or brain edema.<br />Mass Spectrometry Analysis: To clarify the mechanism underlying lipid accumulation in the liver, matrix-assisted laser desorption/ionization imaging mass spectrometry (MALDI-IMS) analysis was conducted. This indicated a significant accumulation of C14:1 acylcarnitine in the liver of the deceased, suggesting very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.<br />Genetic Analysis: To find the cause of the VLCAD deficiency, genetic analysis of the responsible gene, acyl-CoA dehydrogenase, very long chain (ACADVL), was performed. This revealed two novel mutations that may have accounted for the disease.<br />Conclusion: A combination of these data revealed that the liver steatosis in this case might have been caused by VLCAD deficiency based on genetic mutations of ACADVL. Thus, the deceased might have been vulnerable to energy crisis and sudden infant death. The present findings show that MALDI-IMS analysis as well as genetic analysis can be useful for elucidating the cause of death.<br /> (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)
- Subjects :
- Acyl-CoA Dehydrogenase, Long-Chain genetics
Asian People genetics
Base Sequence
Congenital Bone Marrow Failure Syndromes
Fatty Liver pathology
Forensic Genetics
Forensic Pathology
Hepatomegaly pathology
Humans
Infant
Japan
Male
Molecular Sequence Data
Mutation
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Acyl-CoA Dehydrogenase, Long-Chain deficiency
Fatty Liver genetics
Lipid Metabolism, Inborn Errors diagnosis
Mitochondrial Diseases diagnosis
Muscular Diseases diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1872-6283
- Volume :
- 244
- Database :
- MEDLINE
- Journal :
- Forensic science international
- Publication Type :
- Academic Journal
- Accession number :
- 25242572
- Full Text :
- https://doi.org/10.1016/j.forsciint.2014.08.031