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

Neonatal-onset propionic acidemia neurologic deficit, poor feeding and vomiting - a case report and literature review

Paciente pretérmino que reingresa a la unidad de recién nacidos de la Clínica Universitaria Colombia, Bo­gotá DC, por problemas en la alimentación y pobre ganancia ponderal, a quien se le diagnosticó acidemia propiónica mediante cromatografía de ácidos orgánicos en orina. Los errores innatos del metabolismo son entidades que a pesar de tener una baja incidencia, se deben considerar en todo neonato con encefa­ lopatía, problemas en la alimentación o pobre ganancia ponderal, entre otras manifestaciones, ya que el diagnóstico temprano y tratamiento oportuno previenen la aparición de secuelas neurológicas con retardo del desarrollo psicomotor y muerte temprana.

1. 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. Nguyen NH, Morland C, Gonzalez SV, Rise F, Storrn-Mathisen J, Gundersen V, Hassel B. Propionate increases neuronal histone acetylation, but is metabolized oxidatively by glia. Relevance for propionic acidemia, J. Neurochem. 2007; 1O1: 806 -814
20. Morath MA, Okun JG, Müller IB, Sauer SW, Horster F, Hoffmann GF, Kolker S. Neurodegeneration and chronic renal failure in methylmalonic aciduria -a patho­ physiological approach. J Inherit Metab Dis. 2008;31:35-43.
21. Kolker S, Sauer SW, Surtees RA, Leonard JV. The aetiology of neurological complications of organic acidaemias- a role for the blood brain barrier. J In­ herit Metab Dis. 2006; 29: 701 704.
22. Kalidas K, Behrouz R. Jnherited metabolic disorders and cerebral infarction. Ex­ pert Rev Neurother. 2008;8:1731-41.
23. Karall D, Haberlandt E, Schimmel M, Schocke M, Gautsch K, Albrecht U, Baumgartner Sigl S, Scholl-Bürgi S. Cytotoxic nol vasogenic edema is the cause for stroke-like episodes in propionic acidemia. 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. Mol Genet Metab. 2011 Sep 24. [Epub ahead of print]
51. Knerr I, Weinhold N, Vockley J, Gibson KM. Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. J Inherit Metab Dis. 2012;35:29-40.
52. Rela M, Battula N, Madanur M, Mieli-Vergani G, Dhawan A, Champion M, Raiman J, Heaton N. Auxiliary liver transplantation for propionic acidernia: a 10-year follow-up. Am J Transplant. 2007;7:2200-3.
53. Romano S, Valayannopoulos V, Touati G, Jais JP, Rabier D, de Keyzer Y, Bon­ net D, de Lonlay P. Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr. 2010;156:128-34.
54. Barshes NR, Vanatta JM, Patel AJ, Carter BA, O'Mahony CA, Karpen SJ, Goss JA. Evaluation and management of patients with propionic acidemia undergo­ ing liver transplantation: a comprehensive review. Pediatr Transplant. 2006; 10, 773-781.
55. Vara R, Turner C, Mundy H, Heaton ND, Rela M, Mieli-Vergani G, Champion M, Hadzic N. 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