Skip to main content Accessibility help
×
Hostname: page-component-586b7cd67f-gb8f7 Total loading time: 0 Render date: 2024-11-29T01:43:57.420Z Has data issue: false hasContentIssue false

Chapter 18 - Inherited Metabolic Disease and Sudden Unexplained Death in Infancy and Childhood: Post-mortem Samples and Investigations

from Section 5 - Autopsy Findings

Published online by Cambridge University Press:  04 June 2019

Marta C. Cohen
Affiliation:
Sheffield Children’s Hospital
Irene B. Scheimberg
Affiliation:
Royal London Hospital
J. Bruce Beckwith
Affiliation:
Loma Linda University School of Medicine
Fern R. Hauck
Affiliation:
University of Virginia
Get access

Summary

Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2019

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Leach, CE, Blair, PS, Fleming, PJ, et al. Epidemiology of SIDS and explained sudden infant deaths. CESDI SUDI Research Group. Pediatrics, 1999; 104:e43.Google Scholar
Sudden Unexpected Death in Infancy and Childhood. Multi-agency Guidelines for Care and Investigation, 2nd edn. London: The Royal College of Pathologists, 2016.Google Scholar
Bianconi, SE, Cross, JL, Wassif, CA, et al. Pathogenesis, epidemiology, diagnosis, and clinical aspects of Smith-Lemli-Opitz syndrome. Expert Opin Orphan Drugs, 2015; 3:267–80.Google Scholar
Löwy, I How genetics came to the unborn: 1960–2000. Stud Hist Philos Biol Biomed Sci, 2014; 47:154–62.CrossRefGoogle Scholar
Dixit, A, Suri, M When the face says it all: dysmorphology in identifying syndromic causes of epilepsy. Pract Neurol, 2016; 16:111–21.Google Scholar
Donnai, D Dysmorphic disorders – an overview. J Inherit Metab Dis, 1994; 17:442–7.Google Scholar
Yang, Y, Muzny, DM, Reid, JG, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med, 2013; 369:1502–11.CrossRefGoogle ScholarPubMed
Saunders, SL, Morgan, B, Raj, V, et al. Targeted post-mortem computed tomography cardiac angiography: proof of concept. Int J Legal Med, 2011; 125:609–16.CrossRefGoogle ScholarPubMed
Adlam, D, Joseph, S, Robinson, C, et al. Coronary optical coherence tomography: minimally invasive virtual histology as part of targeted post-mortem computed tomography angiography. Int J Legal Med, 2013; 127:991–6.Google Scholar
Higgins, S, Parsons, S, Woodford, N, et al. The effect of post-mortem computed tomography angiography (PMCTA) using water-soluble, iodine-based radiographic contrast on histological analysis of the liver, kidneys, and left ventricle of the heart. Forensic Sci Med Pathol, 2017; 13(3):317–27.Google Scholar
Jones, CJ, Lendon, M, Chawner, LE, et al. Ultrastructure of the human placenta in metabolic storage disease. Placenta, 1990; 11(5):395411 ; www.ncbi.nlm.nih.gov/pubmed/2127960 (accessed 31 October 2018).Google Scholar
Hulkova, H, Ledvinova, J, Kuchar, L, et al. Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease. Glycobiology, 2012; 22:725–32.Google Scholar
Howat, AJ, Bennett, MJ, Variend, S, et al. Defects of metabolism of fatty acids in the Sudden Infant Death Syndrome. Br Med J (Clin Res Ed), 1985; 290:1771–3.Google Scholar
Cohen, MC, Yap, S, Olpin, SEE. Inherited metabolic disease and Sudden Unexpected Death – pathology. In: Payne-James, J, Byard, RW, eds. Encyclopaedia of Forensic and Legal Medicine, 2nd edn, vol. 2. Oxford: Elsevier, 2016: 8595.Google Scholar
Bove, K, Olpin, S The metabolic disease autopsy. In: Cohen, MC, Scheimberg, I, eds. The Pediatric and Perinatal Autopsy Manual, Cambridge: Cambridge University Press: 120–38.Google Scholar
Nelson, J, Kenny, B, O’Hara, D, et al. Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis. J Clin Pathol, 1993; 46:370–1.Google Scholar
Rinaldo, P, Yoon, HR, Yu, C, et al. Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders. Semin Perinatol, 1999; 23:204–10.Google Scholar
Bennett, MJ, Rinaldo, P The metabolic autopsy comes of age. Clin Chem, 2001; 47:1145–6.Google Scholar
Valnot, I, Osmond, S, Gigarel, N, et al. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet, 2000; 67:1104–9.Google Scholar
von Kleist-Retzow, J-C, Cormier-Daire, V, Viot, G, et al. Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr, 2003; 143:208–12.Google Scholar
Sarzi, E, Bourdon, A, Chrétien, D, et al. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr, 2007; 150:531–4, 534.e16.Google Scholar
Willis, JH, Capaldi, RA, Huigsloot, M, et al. Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays. Biochim Biophys Acta – Bioenerg, 2009; 1787:533–8.Google Scholar
Roe, CR, Roe, DS Recent developments in the investigation of inherited metabolic disorders using cultured human cells. Mol Genet Metab, 1999; 68:243–57.Google Scholar
Okun, JG, Kolker, S, Schulze, A, et al. A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. Biochim Biophys Acta, 2002; 1584:91–8.Google ScholarPubMed
Robinson, BH, Glerum, DM, Chow, W, et al. The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia. Pediatr Res, 1990; 28:549–55.CrossRefGoogle ScholarPubMed
Vianey-Saban, C, Acquaviva, C, Cheillan, D, et al. Antenatal manifestations of inborn errors of metabolism: biological diagnosis. J Inherit Metab Dis, 2016; 39:611–24.Google Scholar
Chace, DH, DiPerna, JC, Mitchell, BL, et al. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem, 2001; 47:1166–82.Google Scholar
DiBattista, A, McIntosh, N, Lamoureux, M, et al. Temporal signal pattern recognition in mass spectrometry: a method for rapid identification and accurate quantification of biomarkers for inborn errors of metabolism with quality assurance. Anal Chem, 2017; 89(15):8112–21.CrossRefGoogle ScholarPubMed
Wang, H, Liu, Z, Wang, S, et al. UHPLC-Q-TOF/MS based plasma metabolomics reveals the metabolic perturbations by manganese exposure in rat models. Metallomics, 2017; 9:192203.CrossRefGoogle ScholarPubMed
Wang, Y, Liu, F, Li, P, et al. An improved pseudotargeted metabolomics approach using multiple ion monitoring with time-staggered ion lists based on ultra-high performance liquid chromatography/quadrupole time-of-flight mass spectrometry. Anal Chim Acta, 2016; 927:82–8.Google Scholar
Scaturro, G, Sanfilippo, C, Piccione, M, et al. Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present, and future. Pediatr Med Chir, 2013; 35(3):105–9.Google Scholar
Coman, D, Bhattacharya, K Extended newborn screening: An update for the general paediatrician. J Paediatr Child Health, 2012; 48:E68E72.Google Scholar
Pollak, A, Kasper, DC Austrian newborn screening program: a perspective of five decades. J Perinat Med, 2014; 42:151–8.Google Scholar
Garnotel, R Mass spectrometry and neonatal screening. Ann Biol Clin (Paris), 2015; 73(1):107–11.Google Scholar
Wilcken, B, Wiley, V Newborn screening. Pathology, 2008; 40:104–15.CrossRefGoogle ScholarPubMed
Carragher, FM, Bonham, JR, Smith, JM Pitfalls in the measurement of some intermediary metabolites. Ann Clin Biochem, 2003; 40:313–20.Google Scholar
Peters, V, Bonham, JR, Hoffmann, GF, et al. Qualitative urinary organic acid analysis: 10 years of quality assurance. J Inherit Metab Dis, 2016; 39:683–7.Google Scholar
Scott, C, Olpin, S Peroxisomal disorders. Paediatr Child Health, 2015; 25(3):119–22.Google Scholar
Dempsey, MA, Tan, C, Herman, GE Chondrodysplasia punctata 2, X-linked. Gene Reviews, 2011; https://www.ncbi.nlm.nih.gov/books/NBK55062/ (accessed 30 October 2018).Google Scholar
Evason, K, Bove, KE, Finegold, MJ, et al. Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies. Am J Surg Pathol, 2011; 35:687–96.Google Scholar
Thompson, K, Majd, H, Dallabona, CC, et al. Recurrent De Novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number. Am J Hum Genet, 2016; 99:860–76.Google Scholar
Best, S, Wou, K, Vora, N, et al. Promises, pitfalls, and practicalities of prenatal whole exome sequencing. Prenat Diagn, 2018; 38(1):1019.Google Scholar
Olpin, S, Clark, S, Dalley, J, et al. Fibroblast fatty acid oxidation flux assays stratify risk in newborns with presumptive-positive results on screening for very-long-chain acyl-CoA dehydrogenase deficiency. Int J Neonatal Screen, 2017; 3:2.Google Scholar
Smolina, N, Bruton, J, Kostareva, A, et al. Assaying mitochondrial respiration as an indicator of cellular metabolism and fitness. Methods Mol Biol, 2017; 1601:7987.Google Scholar
Lanza, IR, Nair, KS Mitochondrial metabolic function assessed in vivo and in vitro. Curr Opin Clin Nutr Metab Care, 2010; 13:511–17.CrossRefGoogle ScholarPubMed
Jonckheere, AI, Huigsloot, M, Janssen, AJM, et al. High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders. Clin Chem, 2010; 56:424–31.Google Scholar
Theisen, BE, Rumyantseva, A, Cohen, JS, et al. Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy. Am J Med Genet Part A, 2017; 173(9):2505–10.Google Scholar
Ogawa, E, Shimura, M, Fushimi, T, et al. Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients. J Inherit Metab Dis, 2017; 40(5):685–93.Google Scholar
Barrientos, A, Fontanesi, F, Díaz, F Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using polarography and spectrophotometric enzyme assays. Curr Protoc Hum Gen, 2009: Unit 19.3; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771113/ (accessed 30 October 2018).Google Scholar
Olpin, SE, Manning, NJ, Pollitt, RJ, et al. Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3 H]oleic acid. J Inherit Metab Dis, 1997; 20:415–19.CrossRefGoogle ScholarPubMed
Degoul, F, Brule, H, Cepanec, C, et al. Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene. Hum Mol Genet, 1998; 7:347–54.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×