Propionic academia. A rare genetic disease

Authors

  • Deysi Licourt Otero Centro Provincial de Genética Médica. Pinar del Río.
  • Omar León Vara Cuesta Hospital Abel Santamaría Cuadrado. Pinar del Río.
  • Yanett Sarmiento Portales Hospital Abel Santamaría Cuadrado. Pinar del Río.
  • Zonia Toledo Toledo Centro provincial de Genética Médica.

Keywords:

PROPIONIC ACIDEMIA, KETOSIS, WATER-ELECTROLYTE IMBALANCE, RARE DISEASES.

Abstract

Propionic acidemia, although rare, is one of the most frequent metabolic errors, one case per 100,000 live births. It has an autosomal recessive inheritance. A case with a diagnosis of propionic acidemia is presented. A review of 12 bibliographic citations was made in Pubmed database, OMIM, which was based on the clinical, biochemical and genetic characteristics of the entity. To make the diagnosis, clinical manifestations, age of presentation and results of complementary examinations were taken into account. The clinical manifestations of this severe neonatal form present in this case were described, with expression in the first week of life, given by: respiratory distress, electrolyte imbalance, metabolic acidosis with elevated anion gap, ketonuria and specific biochemical studies suggesting organic aciduria, specifically propionic.

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Author Biographies

Deysi Licourt Otero, Centro Provincial de Genética Médica. Pinar del Río.

Especialista de Primer grado en MGI y Genética Clínica y de Segundo Grado en Genética Clínica. Máster en Atención Integral al niño. Profesora e investigadora Auxiliar.

Omar León Vara Cuesta, Hospital Abel Santamaría Cuadrado. Pinar del Río.

Especialista de Primer  y Segundo grado en  Neonatología. Profesor auxiliar.

Yanett Sarmiento Portales, Hospital Abel Santamaría Cuadrado. Pinar del Río.

Especialista de Primer  y Segundo grado en  Neonatología. Profesora Asistente.

Zonia Toledo Toledo, Centro provincial de Genética Médica.

Licenciada en Biología. Profesora Asistente.

References

1. Aviña Fierro JA, García Salazar O. Acidemia propiónica progresiva. A propósito de un caso. Rev Mex Pediatr. [Internet]. 2006 [Citado en mayo de 2017]; 73(5): [Aprox. 3p.]. Disponible en: http://www.medigraphic.com/pdfs/pediat/sp-2006/sp065e.pdf

2. Prevalencia de las enfermedades raras: Datos bibliográficos. Informes Periódicos de Orphanet [Internet]. 2017 [Citado en sept de 2017]; 1. Disponible en: http://www.orpha.net/orphacom/cahiers/docs/ES/Prevalencia_de_las_enfermedades_raras_por_orden_alfabetico.pdf

3. González Gómez GM, Milano Manso G. Trastornos hidroelectrolíticos. Equilibrio ácido base en pediatría. An Pediatr Contin. [Internet]. 2014[Citado en sept de 2017]; 12(6): [Aprox. 11p.]. Disponible en: appswl.elsevier.es/watermark/ctl_servlet?_f=10&pident_articulo=90371053&pident_usuario=0&pcontactid=&pident_revista=51&ty=118&accion=L&origen=apccontinuada&web=www.apcontinuada.com&lan=es&fichero=51v12n06a90371053pdf001.pdf&anuncioPdf=ERROR_publi_pdf

4. Campistol J, Bóveda MD, Couce ML, Lluch MD, Merinero B. Acidemia Orgánica. Protocolo de diagnóstico y tratamiento de las acidemias propiónica, metilmalónica e isovalérica. Acidemia orgánica [Internet] [Citado en sept de 2017]; Disponible en: http://ae3com.eu/protocolos/protocolo2.pdf

5. Mora L, Suárez F. Aproximación diagnóstica de los errores innatos del metabolismo en la unidad de cuidado intensivo neonatal: acidosis metabólica, hiperamonemia e hipoglicemia. Revista Biosalud [Internet]. 2017[Citado en sept de 2017]; 16(2): [Aprox. 12p.]. Disponible en: https://www.researchgate.net/profile/Fernando_Suarez-Obando3/publication/320841611_APROXIMACION_DIAGNOSTICA_DE_LOS_ERRORES_INNATOS_DEL_METABOLISMO_EN_LA_UNIDAD_DE_CUIDADO_INTENSIVO_NEONATAL_ACIDOSIS_METABOLICA_HIPERAMONEMIA_E_HIPOGLICEMIA/links/59fd362c0f7e9b9968c0684e/APROXIMACION-DIAGNOSTICA-DE-LOS-ERRORES-INNATOS-DEL-METABOLISMO-EN-LA-UNIDAD-DE-CUIDADO-INTENSIVO-NEONATAL-ACIDOSIS-METABOLICA-HIPERAMONEMIA-E-HIPOGLICEMIA.pdf?origin=publication_detail

6. Rice M, Ismail B, Pillow MT. Approach to metabolic acidosis in the emergency department. Emerg Med Clin North Am [Internet]. 2014[Citado en sept de 2017]; 32(2): 403-20. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/24766940

7. Carbajal-Rodríguez L y Rojas Maruri CM. Mujer adolescente con acidemia metilmalónica. Acta Pediatr Mex [Internet]. 2015[Citado en sept de 2017]; 36: [Aprox. 9p.]. Disponible en: http://www.medigraphic.com/pdfs/actpedmex/apm-2015/apm155f.pdf

8. Ferrerira JP. Acidosis Metabólica. Conceptos Actuales. Revista Pediátrica Elizalde [Internet]. 2015[Citado en sept de 2017]; 6(1-2): [Aprox. 55p.]. Disponible en: http://www.apelizalde.org/revistas/2015-1-2-ARTICULOS/RE_2015_1-2_AO_3.pdf

9. Vargas Flores T. Acidosis Metabólica. Rev. Act. Clin. Med [Internet]. 2014[Citado en noviembre de 2017]; 40: [Aprox. 4p.]. Disponible en: http://www.revistasbolivianas.org.bo/pdf/raci/v40/v40_a06.pdf

10. Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases[Internet]. 2014[Citado en sept de 2017]; 9: [Aprox. 100p.]. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180313/

11. Pitchaiah Mandava. Propionic Acidemia. Medscape: Oct 12, [Internet]. 2015[Citado en sept de 2017]; [Aprox. 7p.]. Disponible en: https://emedicine.medscape.com/article/1161910-overview

12. Malvagia S, Haynes CA, Grisotto L, Ombrone D, Funghini S, et al. Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias. Clin Chim Acta. [Internet]. 2015 [Citado en noviembre de 2017]; 450: 342–348. [Aprox. 5p.]. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577792/

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Published

2018-03-02

How to Cite

1.
Licourt Otero D, Vara Cuesta OL, Sarmiento Portales Y, Toledo Toledo Z. Propionic academia. A rare genetic disease. Rev Ciencias Médicas [Internet]. 2018 Mar. 2 [cited 2025 Aug. 30];22(2):379-84. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/3407

Issue

Vol. 22 No. 2 (2018)

Section

CASE REPORTS

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