Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literatura

Autores:: Montealegre, Adriana
Robledo, Erlin
Moreno, José Yecid
Restrepo, Natalia
García, Grégory Alfonso

Tipo de recurso:: Article of journal

Fecha de publicación:: 2012

Institución:: Fundación Universitaria de Ciencias de la Salud - FUCS

Repositorio:: Repositorio Digital Institucional ReDi

Idioma:: spa

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dc.title.spa.fl_str_mv	Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literatura
dc.title.translated.eng.fl_str_mv	Neonatal-onset propionic acidemia neurologic deficit, poor feeding and vomiting - a case report and literature review
title	Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literatura
spellingShingle	Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literatura acidemia orgánica acidemia propiónica aciduria orgánica anormalidades y enfermedades neonatales hiperamonemia pretérmino propionil-CoA-carboxilasa (deficiencia) organic acidemia propionic acidemia organic aciduria neonatal anomalies and diseases hyperammonemia preterm propionyl-CoAcarboxylase ( deficiency )
title_short	Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literatura
title_full	Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literatura
title_fullStr	Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literatura
title_full_unstemmed	Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literatura
title_sort	Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literatura
dc.creator.fl_str_mv	Montealegre, Adriana Robledo, Erlin Moreno, José Yecid Restrepo, Natalia García, Grégory Alfonso
dc.contributor.author.spa.fl_str_mv	Montealegre, Adriana Robledo, Erlin Moreno, José Yecid Restrepo, Natalia García, Grégory Alfonso
dc.subject.spa.fl_str_mv	acidemia orgánica acidemia propiónica aciduria orgánica anormalidades y enfermedades neonatales hiperamonemia pretérmino propionil-CoA-carboxilasa (deficiencia)
topic	acidemia orgánica acidemia propiónica aciduria orgánica anormalidades y enfermedades neonatales hiperamonemia pretérmino propionil-CoA-carboxilasa (deficiencia) organic acidemia propionic acidemia organic aciduria neonatal anomalies and diseases hyperammonemia preterm propionyl-CoAcarboxylase ( deficiency )
dc.subject.eng.fl_str_mv	organic acidemia propionic acidemia organic aciduria neonatal anomalies and diseases hyperammonemia preterm propionyl-CoAcarboxylase ( deficiency )
publishDate	2012
dc.date.accessioned.none.fl_str_mv	2012-12-01 00:00:00 2022-06-29T19:37:05Z
dc.date.issued.none.fl_str_mv	2012-12-01
dc.date.available.none.fl_str_mv	2012-12-01 00:00:00 2022-06-29T19:37:05Z
dc.type.spa.fl_str_mv	Artículo de revista
dc.type.eng.fl_str_mv	Journal article
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dc.identifier.doi.none.fl_str_mv	10.31260/RepertMedCir.v21.n4.2012.822
dc.identifier.issn.none.fl_str_mv	0121-7372
dc.identifier.uri.none.fl_str_mv	https://repositorio.fucsalud.edu.co/handle/001/2843
dc.identifier.eissn.none.fl_str_mv	2462-991X
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url	https://repositorio.fucsalud.edu.co/handle/001/2843 https://doi.org/10.31260/RepertMedCir.v21.n4.2012.822
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dc.relation.references.spa.fl_str_mv	Nelson DL, Cox MM. Lehninger's principies of biochemistry. 5'h ed. New York(USA): W. H. Freeman; 2009. 2. Berg JM, Tymoczko JL, Stryer L. Biochemistry. 7" ed. New York(USA): W. H. Freeman; 2012. 3. Devlin TM. Textbook of biochemistry with clinical correlations. 7" ed. New York, NY(USA): Wiley-Liss; 2010. 4. Gilbert-Bamess E, Bamess LA. Metabolic Disease. In: Vol. l, Part I, Chapter 12, Gi!bert-Barness E, Kapur RP, Oligny LL, Sieber JR(Editors), Potter's Pathology of the Fetus, Infant and Child. 2" ed. Philadelphia,PA(USA): Mosby-Elsevier; 2007. 5. Rezvani 1, Rezvani G. Chapter 78: An Approach to lnborn Errors of Metabo lism. In: Part XI Genetic Disorders of Metabolism, Kliegman RM, Stanton BF, St.Geme III JW, Schor NF, Berhman RE(Editors), Kliegman: Nelson Textbook of Pediatrics. 19" ed. Philadelphia,PA(USA): Elsevier Saunders; 2011. 6. Seashore MR. The Organic Acidemias: An Overview [base de datos en Internet]. In: Pagon RA, Bird TD, Dolan CR, Stephens K(Editors), GeneReviews. Univer sity of Washington, Seattle, WA (USA); 1993-. [citado 20 die 2011]. Disponible en: http://www.ncbi.nlm.nih.gov/books/NBKI134/ 7. lntemational Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) Version for 2010 [base de datos en Internet]. In: World Health Organization(WHO),Geneva(Switzerland); 2010-. [citado 20 die 2011]. Disponible en: http://apps.who.int/classifications/icd I 0/browse/2010/en#/E71.1 8. Ogier de Baulny H, Saudubray JM. Branched-chain organic acidurias. Semin Neonatol. 2002 Feb;7:65-74. 9. Chuang DT, Chuang JL, Wynn RM. Lessonsfrom genetic disorders of branched chain amino acid metabolism. J Nutr. 2006 Jan;l36(1 Suppl):243S-9S. 10. Rezvani 1, Rosenblatt DS. Chapter 79: Defects in metabolism of aminoacids. In: Part XI: Genetic Disorders of Metabolism, Kliegman RM, Stanton BF, St.Geme UI JW, Schor NF, Berhman RE(Editors), Kliegman: Nelson Textbook of Pediat rics. ¡9m ed. Philadelphia,PA(USA): Elsevier Saunders; 2011. 11. Valine, leucine and isoleucine degradation - Reference pathway [base de da tos en Internet]. In: Kyoto Encyclopedia of Genes and Genomes(KEGG), Kyoto(Japón); 1995-. [citado 27 die 201 !]. Disponible en: http://www.genome. jp/kegg-bin/show_pathway?map00280 12. Human Genome Project(HUGO) [base de datos en Internet). In: National Library of Medicine(NLM) and others (exp.:Celera Genomics and the Sanger Center), Singapur(Singapur); 1989-. [citado 27 die 201 !]. Disponible en: http://www. hugo-international.org 13. Online Mendelian Inheritance in Man(OMJM) [base de datos en Internet]. In: Johns Hopkins University, Bethesda,MA (USA); 1966-. [citado 28 die 2011). Disponible en: http://www.ncbi.nlm.nih.gov/omim 14. Korein J, Sansaricq C, Kalmijn M, Honig J, Lange B. Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity. lnt J Neurosci. 1994;79:21-45. 15. Hoffmann GF, Zschocke J. Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. J Inherit Metab Dis. 1999;22:381-91. 16. Kolker S, Ahlemeyer B, Krieglstein J, Hoffmann GF. Methylmalonic acid in duces excitotoxic neuronal damage in vitro. J Inherit Metab Dis. 2000;23:355-8. 17. Wajner M, Coelho DM, Barschak AG, Arauja PR, Pires RF, Lulhier FL, Vargas CR. Reduction of large neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crises. J Inherit Metab Dis. 2000;23:505-12. 18. Yudkoff M, Daikhin Y, Nissim I, Horyn O, Luhovyy B, Lazarow A, Nissim l. Brain amino acid requirements and toxicity: the example of leucine. J Nutr. 2005;135(6 Suppl):1531S-8S. 19. 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Neuropediatrics. 2011;42:2IO. 24. Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Ven ditti CP. Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J. 2009;23:1252-ól. 25. de Keyzer Y, Valayannopoulos V, Benoist JF, Batteux F, Lacaille F, Hubert L, Chrétien D, Chadefeaux-Vekemans B, Niaudel P, Touati G, Munnich A, de Lonlay P. Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. Pediatr Res. 2009;66:91-5. 26. Fragaki K, Cano A, Benoist JF, Rigal O, Chaussenot A, Rouzier C, Bannwarth S, Caruba C, Chabrol B, Paquis-Flucklinger V. Fatal heart failure associated with CoQIO and multiple OXPHOS deficiency in a child with propionic acidemia. Mitochondrion. 201;11:533-6. 27. Wajner M, Goodman SI. Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies. J Bioenerg Biomembr. 2011;43:31-8. 28. Stork LC, Ambruso DR, Wallner SF. Sambrano JE, Moscinski LC, Wilson HL, McCabe ER. Pancytopenia in propionic acidemia: hematologic evaluation and studies of hernatopoiesis in vitro. Pediatr Res. 1986; 20:783-8. 29. Fenneteau O, Lainey E. Bone marrow examination of inherited diseases in chil dren. Ann Biol Clin (Paris). 2007;65:483-503. 30. Di Donato S, Rimoldi M, Garavaglia B, Uziel G. Propionylcamitine excretíon in propionic and rnethylmalonic acidurias: a cause of camitine deficiency. Clin Chim Acta. 1984; 139 , 13 21. 31. Childs B, Nyhan WL, Borden M, Bard L, Cooke RE: Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. Pediatrics. 1961; 27:522. 32. Propionic Acidemia [base de datos en Internet]. In: OrphaneúINSERM(Institut nacional de la santé et de la recherche médicale) SCl 1. Rare Disease Platform, Paris(France); 1997-. [citado 4 ene 2012]. Disponible en: http://www.orpha. net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35 33. Fenton WA, Grave) RA, Rosenblan DS. Chapter 94: Disorders of Propionate and methylmalonate metabolism. In: Scriver CR, Sly WS, Childs B, Beaudet AL, Valle D, Kinzler KW, Vogelstein B(Editors), The Molecular Bases oflnher ited Disease. 8'" ed. New York, NY (USA): McGraw-Hill Professional; 2001. 34. Deodato F, Boenzi S, Santorelli FM. Dionisi-Vici C. Methylmalonic and propi onic aciduria. Am J Med Gene! C Semin Med Genet 2006;142C:104-12. 35. Chapman KA, Summar ML. Propionic acidemia consensus conference summary. Mol Genet Metab. 2011 Aug 16. [Epub ahead of print] 36. Propionic Acidemia [base de datos en Internet]. In: Genetics Home Reference. U.S. National Library of Medicine, Bethesda(MD, USA); 2007-. [citado 5 ene 2012]. Disponible en: http://ghr.nlm.nih.gov/condition/propionic-acidemia 37. Ba1Tera Avellaneda LA. Estudios bioquímicos de los errores innatos del meta bolismo en Colombia, durante dos décadas. Rev Acad Colomb Cienc. 2009; 33: 377-394. 38. Brismar J, Ozand, P.T. CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. AJNR Am J Neuroradiol. 1994;15, 1459-1473. 39. Haberlandt E, Canestrini C, Brunner-Krainz M, Moslinger D, Mussner K, Plecko B, Scholl-Bürgi S, Sperl W, Rostásy K, Karall D. Epilepsy in patients with pro pionic acidemia. Neuropediatrics. 2009;40:120-5. 40. Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Jsland E, Macleod E, Matero D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, Enns GM, Surnmar ML. Natural history of propionic acidemia. Mol Genet Metab. 2011 Sep 22. [Epub ahead of print] 41. Schreiber J, Chapman KA, Summar ML, MewNA, Sutton VR, Macleod E, Stag ni K, Ueda K, Franks J, Island E, Matero D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A, Gropman AL. Neurologic considerations in propionic acidemia. Mol Genet Metab.2011 Oct 19. [Epub ahead of print] 42. Huang CS, Sadre-Bazzaz K, Shen Y, Deng B, Zhou ZH, Tong L. Crystal struc ture of the alpha(6)beta(6) holoenzyme of propionylcoenzyme A carboxylase. Nature. 20IO; 466(7309):1001-1005. 43. Genecards [base de datos en Internet]. In: Weizmann Jnstitute of Science, with Xennex !ne., Rehovot(lsrael); 1996-. [citado 6 ene 2012]. Disponible en: http:// www.genecards.org/cgi-bin/carddisp.pl?gene=PCCA&search=PCCA y http:// www.genecards.org/cgi-bin/carddisp.pl?gene=PCCB&search=PCCB 44. Kraus JP, Venezia S. School of Medicine Kraus Lab. Propionyl Carboxilase Page [base de datos en Internet]. In: Health Science Center, University of Colorado Anschutz Medica!. Aurora Campus, Aurora(CO, USA); 2008- . [citado 7 ene 2012]. Disponible en: http://cbs.lfl.cuni.cz/pcc/pccmain.htm 45. lnternational Union of Biochemistry and Molecular Biology(]UBMB) [base de datos en Internet]. In: Departrnent of Chemistry, Queen Mary University of Lon don, London(UK); 1955-. [citado 7 ene 2012]. Disponible en: http://www.chem. qmul.ac.uk/iubmb/enzyme/EC6/4/!/3.htm1 46. Zempleni J, Hassan YI, Wijeratne SS. Biotin and biotinidase deficiency. Expert Rev Endocrino) Metab. 2008;3:715-724. 47. García A, García GA. Biotina y regulación transcripcional(génica) y epigenética en la especie humana. Repertorio de Medicina y Cirugía. 2011; 20: 158-68. 48. de Baulny HO, Benoist JF, Rigal O, Touati G, Rabier D, Saudubray JM. Meth ylmalonic and propionic acidaemias: management and outcome. J Inherit Metab Dis. 2005;28:415-23. 49. Campistol J, Boveda MD, Couce ML, Merinero B. Protocolo de diagnósti co y tratamiento de las acidemias propiónica, metilmalónica e isovalérica, Barcelona(España); 1985-. [citado 8 ene 2012]. En: Asociación española para el estudio de errores congénitos del metabolismo(AECOM). Disponible en: http:// www.ae3com.eu/recursos-protocolo.php 50. Chapman KA, Gropman A, Macleod E, Stagni K, Summar ML, Ueda K, Mew NA, Franks J, Jsland E, Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani A. Acute management of propionic acidemia. 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Liver transplantation for propionic acidemia in children. Liver Transpl. 2011;17:661-7. 56. Shneider BL, Vockley J, Mazariegos GV. Trading places: liver transplantation as a treatrnent, not a cure, for metabolic liver disease. Liver Transpl. 201 1;17:628-30. 57. Dionisi-Vici C, Deodato F, Roschinger W, Rhead W, Wilcken B. 'Classical' organic acidurias, propionic aciduria, meftylmalonic aciduria and isovaleric aciduria: long-terrn outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis. 2006;29:383-9. 58. GeneTest [base de datos en Internet]. In: The National Center for Biotechnol ogy Jnformation(NCBJ), Seattle(WA, USA); 1993-. [citado JO ene 2012]. Disponible en: http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disea se_id/262505?db=genetests y http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/ clinical_disease_id/262508?db=genetests
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spelling	Montealegre, Adrianaf6d509b0df5a30fae1106f2f3780d507300Robledo, Erlindbf6c66f73420a98701513d67169af06300Moreno, José Yecid832b1caeeeb72268def565c16fc09f61300Restrepo, Nataliaca8f88787302ddc52df4217d986fd606300García, Grégory Alfonsoc782884807cc2de5b3820fafdbc2426f5002012-12-01 00:00:002022-06-29T19:37:05Z2012-12-012012-12-01 00:00:002022-06-29T19:37:05ZSociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Saludhttps://revistas.fucsalud.edu.co/index.php/repertorio/article/view/822acidemia orgánicaacidemia propiónicaaciduria orgánicaanormalidades y enfermedades neonataleshiperamonemiapretérminopropionil-CoA-carboxilasa (deficiencia)organic acidemiapropionic acidemiaorganic acidurianeonatal anomalies and diseaseshyperammonemiapretermpropionyl-CoAcarboxylase ( deficiency )Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literaturaNeonatal-onset propionic acidemia neurologic deficit, poor feeding and vomiting - a case report and literature reviewapplication/pdfArtículo de revistaJournal articlehttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_dcae04bchttp://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionTexthttp://purl.org/redcol/resource_type/ARTREVhttp://purl.org/coar/version/c_970fb48d4fbd8a8510.31260/RepertMedCir.v21.n4.2012.8220121-7372https://repositorio.fucsalud.edu.co/handle/001/28432462-991Xhttps://doi.org/10.31260/RepertMedCir.v21.n4.2012.822spaNelson DL, Cox MM. Lehninger's principies of biochemistry. 5'h ed. New York(USA): W. H. Freeman; 2009. 2. Berg JM, Tymoczko JL, Stryer L. Biochemistry. 7" ed. New York(USA): W. H. Freeman; 2012. 3. Devlin TM. Textbook of biochemistry with clinical correlations. 7" ed. New York, NY(USA): Wiley-Liss; 2010. 4. Gilbert-Bamess E, Bamess LA. Metabolic Disease. In: Vol. l, Part I, Chapter 12, Gi!bert-Barness E, Kapur RP, Oligny LL, Sieber JR(Editors), Potter's Pathology of the Fetus, Infant and Child. 2" ed. Philadelphia,PA(USA): Mosby-Elsevier; 2007. 5. Rezvani 1, Rezvani G. Chapter 78: An Approach to lnborn Errors of Metabo lism. In: Part XI Genetic Disorders of Metabolism, Kliegman RM, Stanton BF, St.Geme III JW, Schor NF, Berhman RE(Editors), Kliegman: Nelson Textbook of Pediatrics. 19" ed. Philadelphia,PA(USA): Elsevier Saunders; 2011. 6. Seashore MR. The Organic Acidemias: An Overview [base de datos en Internet]. In: Pagon RA, Bird TD, Dolan CR, Stephens K(Editors), GeneReviews. Univer sity of Washington, Seattle, WA (USA); 1993-. [citado 20 die 2011]. Disponible en: http://www.ncbi.nlm.nih.gov/books/NBKI134/ 7. lntemational Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) Version for 2010 [base de datos en Internet]. In: World Health Organization(WHO),Geneva(Switzerland); 2010-. [citado 20 die 2011]. Disponible en: http://apps.who.int/classifications/icd I 0/browse/2010/en#/E71.1 8. Ogier de Baulny H, Saudubray JM. Branched-chain organic acidurias. Semin Neonatol. 2002 Feb;7:65-74. 9. Chuang DT, Chuang JL, Wynn RM. Lessonsfrom genetic disorders of branched chain amino acid metabolism. J Nutr. 2006 Jan;l36(1 Suppl):243S-9S. 10. Rezvani 1, Rosenblatt DS. Chapter 79: Defects in metabolism of aminoacids. In: Part XI: Genetic Disorders of Metabolism, Kliegman RM, Stanton BF, St.Geme UI JW, Schor NF, Berhman RE(Editors), Kliegman: Nelson Textbook of Pediat rics. ¡9m ed. Philadelphia,PA(USA): Elsevier Saunders; 2011. 11. Valine, leucine and isoleucine degradation - Reference pathway [base de da tos en Internet]. In: Kyoto Encyclopedia of Genes and Genomes(KEGG), Kyoto(Japón); 1995-. [citado 27 die 201 !]. Disponible en: http://www.genome. jp/kegg-bin/show_pathway?map00280 12. Human Genome Project(HUGO) [base de datos en Internet). In: National Library of Medicine(NLM) and others (exp.:Celera Genomics and the Sanger Center), Singapur(Singapur); 1989-. [citado 27 die 201 !]. Disponible en: http://www. hugo-international.org 13. Online Mendelian Inheritance in Man(OMJM) [base de datos en Internet]. In: Johns Hopkins University, Bethesda,MA (USA); 1966-. [citado 28 die 2011). Disponible en: http://www.ncbi.nlm.nih.gov/omim 14. Korein J, Sansaricq C, Kalmijn M, Honig J, Lange B. Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity. lnt J Neurosci. 1994;79:21-45. 15. Hoffmann GF, Zschocke J. 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Acidemia propiónica neonatal con deterioro neurológico, rechazo al alimento y emesis reporte de caso y revisión de la literatura

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