Skip to main content Accessibility help
×
Hostname: page-component-cd9895bd7-q99xh Total loading time: 0 Render date: 2024-12-26T14:21:23.808Z Has data issue: false hasContentIssue false

Chapter 34 - Inherited Metabolic Disease and Sudden Unexplained Death in Infancy and Childhood: Pathophysiology

from Section 7 - Pathophysiology

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

Garrod, AE. Inborn Errors of Metabolism. Oxford: Oxford University Press 1909.Google Scholar
Leonard, JV, Morris, AAM. Inborn errors of metabolism around the time of birth. Lancet, 2000; 356:583–7.Google Scholar
Sinclair-Smith, C, Dinsdale, F, Emery, J. Evidence of duration and type of illness in children found unexpectedly dead. Arch Dis Child, 1976; 51:424–8.Google Scholar
Saudubray, J-M, Charpentier, C. Clinical phenotypes: diagnosis/algorithms. In: Scriver, CR, Beaudet, AL, Sly, WS, Valle, D, eds. The Metabolic and Molecular Basis of Inherited Disease, 8th edn. New York: McGraw-Hill, 2000: 1327–403.Google Scholar
Munnich, A, Rotig, A, Cormier-Daire, V, Rustin, P. Clinical presentation of respiratory chain deficiency. In: Scriver, CR, Beaudet, AL, Sly, WS, Valle, D, eds. The Metabolic and Molecular Basis of Inherited Disease, 8th edn. New York: Graw-Hill, 2000: 2261–74.Google Scholar
Howat, AJ, Bennett, MJ, Variend, S, Shaw, L, Engel, PC. Defects in the metabolism of fatty acids in Sudden Infant Death Syndrome. Br Med J, 1985; 290:1771–3.CrossRefGoogle Scholar
Rinaldo, P, Yoon, HR, Yu, C, Raymond, K, Tiozzo, C, Giordano, G. Sudden and unexpected neonatal death: protocol for the post-mortem diagnosis of fatty acid oxidation disorders. Semin Perinatol, 1999; 23:204–10.CrossRefGoogle Scholar
Arens, R, Gozel, D, Jain, K, Muscati, S, Heuser, ET, Williams, JC et al. Prevalence of medium-chain dehydrogenase deficiency in Sudden Infant Death Syndrome. J Pediatr, 1993; 122:715–18.Google Scholar
Boles, RG, Buck, EA, Blitzer, MG, et al. Retrospective biochemical screening of fatty acid oxidation disorders in post-mortem livers of 418 cases of sudden death in the first year of life. J Pediatr, 1998; 132(6):924–33.CrossRefGoogle Scholar
Chace, DH, DiPerna, JC, Mitchell, BL, Sgroi, B, Hofman, LF, Naylor, EW. Electrospray tandem mass spectrometry for acylcarnitines in dried post-mortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem, 2001; 47(7):1166–82.Google Scholar
Kølvraa, S., Gregersen, N., Christiensen, E., Hobolth, N. In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence of a defect in general acyl-CoA dehydrogenase. Clin Chin Acta, 1982; 126:5367.CrossRefGoogle Scholar
Rhead, WJ, Amendt, BA, Fritchman, KS, Felts, SJ. Dicarboxylic aciduria: deficient [1-14 C] octanoate oxidation and medium chain acyl-CoA dehydrogenase deficiency in fibroblasts. Science, 1983; 221:73–5.CrossRefGoogle Scholar
Lafolla, AK, Thompson, RJ, Roe, CR. Medium-chain acyl-CoA dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr, 1994; 124:409–15.Google Scholar
Andresen, BS, Bross, P, Udvari, S, Kirk, J, Gray, RGF, Kmock, S, et al. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients – is there a correlation between genotype and phenotype? Hum Mol Genet, 1997; 6:695707.Google Scholar
Wang, SS, Fernhoff, PM, Hannon, WH, Khoury, MJ. Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med, 1999; 1(7):332–9.Google Scholar
Heales, SJR, Thompson, GN, Massoud, A.F, Rahman, S, Halliday, D, Leonard, JV. Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency. J Inher Metab Dis, 1994; 17(1):7480.CrossRefGoogle ScholarPubMed
Fletcher, JM, Pitt, JJ. Fasting medium chain acyl-CoA dehydrogenase-deficient children can make ketones. Metabolism, 2001; 50(2):161–5.CrossRefGoogle ScholarPubMed
Bennett, MJ, Rinaldo, P, Strauss, AW. Inborn errors of mitochondrial fatty acid oxidation. Crit Rev Clin Lab Sci, 2000; 37(1):144.CrossRefGoogle ScholarPubMed
Patterson, AL, Henderson, MJ, Kumar, R. Metabolic autopsy: lessons from an MCAD diagnosis. In: Martin SM, ed.: Proc ACB National Meeting, 2003; 70:59.Google Scholar
Brackett, JC, Sims, HF, Steiner, RD, Nunge, M, Zimmerman, EM, deMartinville, B, et al. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. J Clin Invest, 1994; 94(4):1477–83.CrossRefGoogle ScholarPubMed
Ruitenbeek, W, Poelis, PJ, Turnbull, DM, Garavaglia, B, Chalmers, RA, Taylor, RW, Gabreels, FJ. Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency. J Neurol Neurosurg Psych, 1995; 58(2):209–14.Google Scholar
Rinaldo, P, Raymond, K, Barnes, CA. Medium chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45-year-old woman. J Inher Metab Dis, 1999; 22:104.Google Scholar
Gregerson, N, Blakemore, A, Winter, V, Andresen, BS, Kølvraa, S, Bolund, L, et al. Specific diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point mutation (G985) in the MCAD gene. Clin Chim Acta, 1991; 203:2334.Google Scholar
Saudubray, JM, Martin, D, de Lonlay, P, Touati, G, Poggi-Travert, F, Bonnet, D, et al. Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inher Metab Dis, 1999; 22:448502.CrossRefGoogle ScholarPubMed
Pollitt, RJ, Olpin, SE, Bonham, JR, Cahalane, SF, Naughten, E. Late-presenting carnitine transport defect. Enzyme and Protein, 1993; 3:175.Google Scholar
Maestri, NE, Clissold, DB, Brusilow, S. Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. J Pediatr, 1999; 134(3):268–72.Google Scholar
Hudak, ML, Jones, MD, Brusilow, SW. Differentiation of transient hyperammonaemia of the newborn and urea cycle enzyme defects by clinical presentation. J Pediatr, 1985; 107:712–19.CrossRefGoogle ScholarPubMed

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
×