Profile

New User

New to Graphy Publications? Create an account to get started today.

Registered Users

Have an account? Sign in now.

How to Cite | Author Information | Publication History
International Journal of Pediatrics & Neonatal Care Volume 1 (2015), Article ID 1:IJPNC-111, 6 pages
http://dx.doi.org/10.15344/2455-2364/2015/111
Review Article
Neonatal Seizures and Inborn Errors of Metabolism: An Update

Eleonora Parisi1, Antonio Nicotera2, Antonella Alagna3 and Gabriella Di Rosa4*

1Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences. Unit of Infantile Neuropsychiatry, University Hospital of Messina, Messina, Italy
2Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, Italy
3IRCCS Centro Neurolesi, Italy
4University of Messina, Messina, Italy
Dr. Gabriella Di Rosa, MD, PhD. Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences. Unit of Infantile Neuropsychiatry, University Hospital of Messina, Via Consolare Valeria, 1 98125 Messina, Italy; E-mail: gdirosa@unime.it
23 May 2015; 02 December 2015; 04 December 2015
Parisi E, Nicotera A, Alagna A, Di Rosa G (2015) Neonatal Seizures and Inborn Errors of Metabolism: An Update. Int J Pediatr Neonat Care 1: 111. doi: http://dx.doi.org/10.15344/2455-2364/2015/111
© 2015 Parisi et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

References

  1. Plouin P, Kaminska A (2013) Neonatal seizures. Handb Clin Neurol 111: 467-476 [CrossRef] [PubMed]
  2. Arzimanoglou A (2004) Epilepsy in Children (3rd edition). Lippincott Williams & Wilkins Press. UK 2004, pp.81-87
  3. Vasudevan C, Levene M (2013) Epidemiology and aetiology of neonatal seizures. Semin Fetal Neonatal Med 18: 185-191 [CrossRef] [Google Scholar] [PubMed]
  4. Bahi-Buisson N, Mention K, Léger PL, Valayanopoulos V, Nabbout R, et al. (2006) [Neonatal epilepsy and inborn errors of metabolism]. Arch Pediatr 13: 284-292 [CrossRef] [Google Scholar] [PubMed]
  5. Poretti A, Blaser SI, Lequin MH, Fatemi A, Meoded A, et al. (2013) Neonatal neuroimaging findings in inborn errors of metabolism. J Magn Reson Imaging 37: 294-312 [CrossRef] [Google Scholar] [PubMed]
  6. Fernandes J, Saudubray JM, Van den Berghe G (2006) Inborn Metabolic Diseases: Diagnosis and Treatment. (4th revised edn) Berlin, New York: Springer [Google Scholar]
  7. Wolf NI, García-Cazorla A, Hoffmann GF (2009) Epilepsy and inborn errors of metabolism in children. J Inherit Metab Dis 32: 609-617 [CrossRef] [Google Scholar] [PubMed]
  8. Papetti L, Parisi P, Leuzzi V, Nardecchia F, Nicita F, et al. (2013) Metabolic epilepsy: an update. Brain Dev 35: 827-841 [CrossRef] [Google Scholar] [PubMed]
  9. Summar ML, Pagon RA, Bird TD, Dolan CR, Stephens K, et al. (2005) Urea Cycle Disorders Overview. Seattle (WA): University of Washington, Seattle, pp. 1993-2002 [Google Scholar] [PubMed]
  10. Gropman AL, Summar M, Leonard JV (2007) Neurological implications of urea cycle disorders. J Inherit Metab Dis 30: 865-879 [CrossRef] [Google Scholar] [PubMed]
  11. Schadewaldt P, Wendel U (1997) Metabolism of branched-chain amino acids in maple syrup urine disease. Eur J Pediatr 156: S62-S66 [CrossRef] [Google Scholar] [PubMed]
  12. Simon E, Fingerhut R, Baumkotter J, Konstantopoulou V, Ratschmann R, et al. (2006) Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease. J Inherit Metab Dis 29: 532-537 [CrossRef] [Google Scholar] [PubMed]
  13. Righini A, Ramenghi LA, Parini R, Triulzi F, Mosca F, et al. (2003) Apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: evidence of intramyelinic and vasogenic- interstitial edema. J Neuroimaging 13: 162-165 [CrossRef] [Google Scholar] [PubMed]
  14. Nyhan WL, Bay C, Beyer EW, Mazi M (1999) Neurologic nonmetabolic presentation of propionic acidemia. Arch Neurol 56: 1143-1147 [CrossRef] [Google Scholar] [PubMed]
  15. Dave P, Curless RG, Steinman L (1984) Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. Arch Neurol 4: 1293- 1296 [CrossRef] [Google Scholar] [PubMed]
  16. Davison JE, Davies NP, Wilson M, Sun Y, Chakrapani A, et al (2011) MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation. Orphanet J Rare Dis 6: 19 [CrossRef] [Google Scholar] [PubMed]
  17. Van Gosen L (2008) Organic acidemias: a methylmalonic and propionic focus. J Pediatr Nurs 23: 225-233 [CrossRef] [Google Scholar] [PubMed]
  18. Kölker S, Christensen E, Leonard JV, Greenberg CR, Burlina AB, et al. (2007) Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 30: 5-22 [CrossRef] [Google Scholar] [PubMed]
  19. Hoffmann GF, Athanassopoulos S, Burlina AB, et al. (1996) Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 27: 115-123 [CrossRef] [Google Scholar] [PubMed]
  20. HUNT AD Jr, STOKES J Jr, McCRORY WW, STROUD HH (1954) Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics 13: 140-145 [Google Scholar] [PubMed]
  21. Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, et al. (2006) Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 12: 307-309 [CrossRef] [Google Scholar] [PubMed]
  22. Plecko B, Stöckler-Ipsiroglu S, Paschke E, Erwa W, Struys EA, et al. (2000) Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol 48: 121-125 [CrossRef] [Google Scholar] [PubMed]
  23. Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, et al. (2009) Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol 65: 550-556 [CrossRef] [Google Scholar] [PubMed]
  24. Collins JE, Nicholson NS, Dalton N, Leonard JV (1994) Biotinidase deficiency: early neurological presentation. Dev Med Child Neurol 36: 268- 270 [CrossRef] [Google Scholar] [PubMed]
  25. Wastell HJ, Bartlett K, Dale G, Shein A (1988) Biotinidase deficiency: a survey of 10 cases. Arch Dis Child 63: 1244-1249 [CrossRef] [Google Scholar] [PubMed]
  26. Sakamoto O, Suzuki Y, Li X, Aoki Y, Hiratsuka M, et al. (2000) Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency. Eur J Pediatr 159: 18-22 [CrossRef] [Google Scholar] [PubMed]
  27. Di Rosa G, Tortorella G (2012) Epilepsy and Inborn errors of Metabolism: a clinical and electroencephalographic review. The Child 1: 2
  28. Dulac O (2013) Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia. Handb Clin Neurol 113: 1785-1797 [CrossRef] [Google Scholar] [PubMed]
  29. Jaeken J (2002) Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy. J Child Neurol 17 Suppl 3: 3S84-87 [Google Scholar] [PubMed]
  30. Tabatabaie L, Klomp LW, Berger R, de Koning TJ (2010) L-serine synthesis in the central nervous system: a review on serine deficiency disorders. Mol Genet Metab 99: 256-262 [CrossRef] [Google Scholar] [PubMed]
  31. Mercimek-Mahmutoglu S1, Stoeckler-Ipsiroglu S, Adami A, Appleton R, Araújo HC, et al. (2006) GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology 67: 480-484 [CrossRef] [Google Scholar] [PubMed]
  32. Pearl PL, Gibson KM (2004) Clinical aspects of the disorders of GABA metabolism in children. Curr Opin Neurol 17: 107-113 [CrossRef] [Google Scholar] [PubMed]
  33. Pearl PL, Taylor JL, Trzcinski S, Sokohl A (2007) The pediatric neurotransmitter disorders. J Child Neurol 22: 606-616 [CrossRef] [Google Scholar] [PubMed]
  34. Rahman S (2012) Mitochondrial disease and epilepsy. Dev Med Child Neurol 54: 397-406 [CrossRef] [Google Scholar] [PubMed]
  35. Brown GK, Scholem RD, Croll HB, Wraith JE, McGill JJ (1989) Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients. Neurology 39: 252-257 [CrossRef] [Google Scholar] [PubMed]
  36. Sass JO, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG, et al. (2010) Functional deficiencies of sulfite oxidase: differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia. Brain Dev 32: 544-549 [CrossRef] [Google Scholar] [PubMed]
  37. Lee PR, Raymond GV (2013) Child neurology: Zellweger syndrome. Neurology 80: e207-210 [CrossRef] [Google Scholar] [PubMed]
  38. Farrell DF (2012) Neonatal adrenoleukodystrophy: a clinical, pathologic, and biochemical study. Pediatr Neurol 47: 330-336 [CrossRef] [Google Scholar] [PubMed]
  39. Sakai N (2009) Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment. Brain Dev 31: 485-487. [CrossRef] [Google Scholar] [PubMed]
  40. Zafeiriou DI, Anastasiou AL, Michelakaki EM, Augoustidou-Savvopoulou PA, Katzos GS, et al. (1997) Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies. Brain Dev 19: 488-491 [CrossRef] [Google Scholar] [PubMed]
Best viewed in Mozilla Firefox, Google Chrome, Safari, Above IE 9.0 version
Privacy Policy | Copyright & Permissions
Copyright © 2013-2024 Graphy Publications, All Rights Reserved.