Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey

Raquel Parada Benavente; Antonia del Valle Leyva; Isel Aguero Mesa

doi:doi:10.11648/j.jfns.20221001.12

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Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey

Raquel Parada Benavente, Antonia del Valle Leyva, Isel Aguero Mesa

Published in Journal of Food and Nutrition Sciences (Volume 10, Issue 1)

Received: 27 October 2021 Accepted: 29 November 2021 Published: 15 January 2022

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Abstract

Justification: The acidemia propionica (AP) is one of the most frequent organic acidemias constitutes inside the congenital errors of the metabolism (CEM). The organic acidemias originates of congenital enzymatic defects that affect the catabolism of the ramified amino acids (AACR) valina, leucina, and isoleucina. In the case of the AP, the molecular damage resides in the deficiency of the activity carboxilasa of the propionil-CoA: an enzyme mitocondrial biotina-clerk that catalyzes the propionil-CoA transformation in metilmanolil-CoA, metabolic step that makes possible the degradation of the AACR valina and isoleucina, as well as of the sulfurated metionina and treonina. The precocious diagnosis of the AP is important to prevent the mental delay and the affected boy's death. Objective: To present the case of preescolar with diagnostic of AP from the birth with favorable evolution, in spite of their multiple revenues with secondary states of extreme graveness to disproportionates. Clinical case: Patient of four years of age that began to present rejection to the foods, vomits and retard of the psychomotor development from the birth. The first revenues were motivated by dehydrations and severe metabolic acidosis, with neurological manifestations that took it to the coma in an opportunity. She was carried out the diagnosis of AP and doctors began the necessary and correct dietary treatment. Conclusions: Before a patient with neurological manifestations that could made a mistake with a sharp intoxication in the stage neonatal, accompanied by vomits, retard of the growth, metabolic acidosis of not very clear cause, it should be suspected the acidemia or aciduria propionica or any other of the CEM. Nutritional improvement was observed and of the psychomotor development after the introduction of a diet free of proteins and leaning with supplements of vitamins.

Published in	Journal of Food and Nutrition Sciences (Volume 10, Issue 1)
DOI	10.11648/j.jfns.20221001.12
Page(s)	8-13
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2022. Published by Science Publishing Group

Keywords

Acidemia Propionica, Acidosis, Hiperamoniemia

References

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[2]	Mahoney, M. J. (1976). Organic acidemias. Clinics in Perinatology, 3 (1), 61-78.
[3]	Chuang DT, Shih GOES. Maple syrup urine disease (branched-chain ketoaciduria). In: Scriver CR, Beaudet TO THE, Sly WS, Valley D, eds. The Metabolic Molecular and Bases of Inherited Disease. New York, NY: McGraw-Hill; 2001: 1971-2006.
[4]	Vockley, J., & Ensenauer, R. (2006, May). Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 142, No. 2, pp. 95-103). Hoboken: Wiley Subscription Services, Inc., TO Wiley Company.
[5]	Gallardo, M. E., Desviat, L. R., Rodríguez, J. M., Spread-Gordillo, J., Pérez-Cerdá, C., Pérez, B.,... & Gibson, K. M. (2001). The molecular basis of 3-methylcrotonylglycinuria, to disorder of leucine catabolism. The American Journal of Human Genetics, 68 (2), 334-346.
[6]	Lehnert W, Sperl W, Suormala T, Baumgartner ER. Propionic acidaemia: Clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr. 1994; 153: S68-80.
[7]	Cammarata-Scalisi, F., I Yen-escaped, C., Tze-Tze, L., Gives Silva, G., Araque, D., Callea, M., & Avendaño, A. (2019). clinical, biochemical and molecular Discoveries of the acidemia propiónica. Report of a case. Arch Argent Pediatr, 117 (3), e288-e291. Available in: http://dx.doi.org/10.5546/aap.2019.e288.
[8]	Fowler B, Leonard JV, Baumgartner MR. Cause of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis 2008; 31: 350-60.
[9]	Pérez González AND, Tamayo Chang V, Galcerán Chacón G, Hernández García TO, Espinosa Matos I. The aciduria metilmalónica: Concerning a case. Clinical, nutritional and metabolic evolution. RCAN Cuban Rev Aliment Nutr 29 (2): 499-513.
[10]	Vargas, C. R., Ribas, G. S., gives Silva, J. M., Sitta, A., Deon, M., of Moura Coelho, D., & Wajner, M. (2018). Selective Screening of fatty acids oxidation defects and organic acidemias by liquid chromatography/tandem mass spectrometry acylcarnitine analysis in Brazilian patients. File of medical research, 49 (3), 205-212.
[11]	Karam, P. E., Habbal, M. Z., Mikati, M. A., Zaatari, G. E., Short, N. K., & Daher, R. T. (2013). Diagnostic challenges of aminoacidopathies and organic acidemias in to developing country: to twelve-year experience. Clinical biochemistry, 46 (18), 1787-1792.
[12]	Chapman, K. A., Gropman, A., MacLeod, E., Stagni, K., Summar, M. L., Ueda, K.,... & it Punishes, L. (2012). Acute management of propionic acidemia. Molecular genetics and metabolism, 105 (1), 16-25.
[13]	Almási, T., Guey, L. T., Lukacs, C., Csetneki, K., Vokó, Z., & Zelei, T. (2019). Systematic literature review and goal-analysis on the epidemiology of propionic acidemia. Orphanet journal of rare diseases, 14 (1), 1-8.
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[15]	Ozand, P. T., Rashed, M., Gascon, G. G., Youssef, N. G., Harfi, H., Rahbeeni, Z.,... & To the Aqeel, A. (1994). Unusual presentations of propionic acidemia. Brain and Development, 16, 46-57.

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Raquel Parada Benavente, Antonia del Valle Leyva, Isel Aguero Mesa. (2022). Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey. Journal of Food and Nutrition Sciences, 10(1), 8-13. https://doi.org/10.11648/j.jfns.20221001.12

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ACS Style

Raquel Parada Benavente; Antonia del Valle Leyva; Isel Aguero Mesa. Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey. J. Food Nutr. Sci. 2022, 10(1), 8-13. doi: 10.11648/j.jfns.20221001.12

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AMA Style

Raquel Parada Benavente, Antonia del Valle Leyva, Isel Aguero Mesa. Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey. J Food Nutr Sci. 2022;10(1):8-13. doi: 10.11648/j.jfns.20221001.12

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@article{10.11648/j.jfns.20221001.12,
  author = {Raquel Parada Benavente and Antonia del Valle Leyva and Isel Aguero Mesa},
  title = {Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey},
  journal = {Journal of Food and Nutrition Sciences},
  volume = {10},
  number = {1},
  pages = {8-13},
  doi = {10.11648/j.jfns.20221001.12},
  url = {https://doi.org/10.11648/j.jfns.20221001.12},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.jfns.20221001.12},
  abstract = {Justification: The acidemia propionica (AP) is one of the most frequent organic acidemias constitutes inside the congenital errors of the metabolism (CEM). The organic acidemias originates of congenital enzymatic defects that affect the catabolism of the ramified amino acids (AACR) valina, leucina, and isoleucina. In the case of the AP, the molecular damage resides in the deficiency of the activity carboxilasa of the propionil-CoA: an enzyme mitocondrial biotina-clerk that catalyzes the propionil-CoA transformation in metilmanolil-CoA, metabolic step that makes possible the degradation of the AACR valina and isoleucina, as well as of the sulfurated metionina and treonina. The precocious diagnosis of the AP is important to prevent the mental delay and the affected boy's death. Objective: To present the case of preescolar with diagnostic of AP from the birth with favorable evolution, in spite of their multiple revenues with secondary states of extreme graveness to disproportionates. Clinical case: Patient of four years of age that began to present rejection to the foods, vomits and retard of the psychomotor development from the birth. The first revenues were motivated by dehydrations and severe metabolic acidosis, with neurological manifestations that took it to the coma in an opportunity. She was carried out the diagnosis of AP and doctors began the necessary and correct dietary treatment. Conclusions: Before a patient with neurological manifestations that could made a mistake with a sharp intoxication in the stage neonatal, accompanied by vomits, retard of the growth, metabolic acidosis of not very clear cause, it should be suspected the acidemia or aciduria propionica or any other of the CEM. Nutritional improvement was observed and of the psychomotor development after the introduction of a diet free of proteins and leaning with supplements of vitamins.},
 year = {2022}
}

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TY  - JOUR
T1  - Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey
AU  - Raquel Parada Benavente
AU  - Antonia del Valle Leyva
AU  - Isel Aguero Mesa
Y1  - 2022/01/15
PY  - 2022
N1  - https://doi.org/10.11648/j.jfns.20221001.12
DO  - 10.11648/j.jfns.20221001.12
T2  - Journal of Food and Nutrition Sciences
JF  - Journal of Food and Nutrition Sciences
JO  - Journal of Food and Nutrition Sciences
SP  - 8
EP  - 13
PB  - Science Publishing Group
SN  - 2330-7293
UR  - https://doi.org/10.11648/j.jfns.20221001.12
AB  - Justification: The acidemia propionica (AP) is one of the most frequent organic acidemias constitutes inside the congenital errors of the metabolism (CEM). The organic acidemias originates of congenital enzymatic defects that affect the catabolism of the ramified amino acids (AACR) valina, leucina, and isoleucina. In the case of the AP, the molecular damage resides in the deficiency of the activity carboxilasa of the propionil-CoA: an enzyme mitocondrial biotina-clerk that catalyzes the propionil-CoA transformation in metilmanolil-CoA, metabolic step that makes possible the degradation of the AACR valina and isoleucina, as well as of the sulfurated metionina and treonina. The precocious diagnosis of the AP is important to prevent the mental delay and the affected boy's death. Objective: To present the case of preescolar with diagnostic of AP from the birth with favorable evolution, in spite of their multiple revenues with secondary states of extreme graveness to disproportionates. Clinical case: Patient of four years of age that began to present rejection to the foods, vomits and retard of the psychomotor development from the birth. The first revenues were motivated by dehydrations and severe metabolic acidosis, with neurological manifestations that took it to the coma in an opportunity. She was carried out the diagnosis of AP and doctors began the necessary and correct dietary treatment. Conclusions: Before a patient with neurological manifestations that could made a mistake with a sharp intoxication in the stage neonatal, accompanied by vomits, retard of the growth, metabolic acidosis of not very clear cause, it should be suspected the acidemia or aciduria propionica or any other of the CEM. Nutritional improvement was observed and of the psychomotor development after the introduction of a diet free of proteins and leaning with supplements of vitamins.
VL  - 10
IS  - 1
ER  -

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Author Information

Raquel Parada Benavente

Carlos Juan Finlay Medical School, Provincial Pediatric Hospital, Camaguey, Cuba
Antonia del Valle Leyva

Carlos Juan Finlay Medical School, Provincial Pediatric Hospital, Camaguey, Cuba
Isel Aguero Mesa

Carlos Juan Finlay Medical School, Provincial Pediatric Hospital, Camaguey, Cuba

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Raquel Parada Benavente, Antonia del Valle Leyva, Isel Aguero Mesa. (2022). Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey. Journal of Food and Nutrition Sciences, 10(1), 8-13. https://doi.org/10.11648/j.jfns.20221001.12

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ACS Style

Raquel Parada Benavente; Antonia del Valle Leyva; Isel Aguero Mesa. Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey. J. Food Nutr. Sci. 2022, 10(1), 8-13. doi: 10.11648/j.jfns.20221001.12

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AMA Style

Raquel Parada Benavente, Antonia del Valle Leyva, Isel Aguero Mesa. Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey. J Food Nutr Sci. 2022;10(1):8-13. doi: 10.11648/j.jfns.20221001.12

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@article{10.11648/j.jfns.20221001.12,
  author = {Raquel Parada Benavente and Antonia del Valle Leyva and Isel Aguero Mesa},
  title = {Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey},
  journal = {Journal of Food and Nutrition Sciences},
  volume = {10},
  number = {1},
  pages = {8-13},
  doi = {10.11648/j.jfns.20221001.12},
  url = {https://doi.org/10.11648/j.jfns.20221001.12},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.jfns.20221001.12},
  abstract = {Justification: The acidemia propionica (AP) is one of the most frequent organic acidemias constitutes inside the congenital errors of the metabolism (CEM). The organic acidemias originates of congenital enzymatic defects that affect the catabolism of the ramified amino acids (AACR) valina, leucina, and isoleucina. In the case of the AP, the molecular damage resides in the deficiency of the activity carboxilasa of the propionil-CoA: an enzyme mitocondrial biotina-clerk that catalyzes the propionil-CoA transformation in metilmanolil-CoA, metabolic step that makes possible the degradation of the AACR valina and isoleucina, as well as of the sulfurated metionina and treonina. The precocious diagnosis of the AP is important to prevent the mental delay and the affected boy's death. Objective: To present the case of preescolar with diagnostic of AP from the birth with favorable evolution, in spite of their multiple revenues with secondary states of extreme graveness to disproportionates. Clinical case: Patient of four years of age that began to present rejection to the foods, vomits and retard of the psychomotor development from the birth. The first revenues were motivated by dehydrations and severe metabolic acidosis, with neurological manifestations that took it to the coma in an opportunity. She was carried out the diagnosis of AP and doctors began the necessary and correct dietary treatment. Conclusions: Before a patient with neurological manifestations that could made a mistake with a sharp intoxication in the stage neonatal, accompanied by vomits, retard of the growth, metabolic acidosis of not very clear cause, it should be suspected the acidemia or aciduria propionica or any other of the CEM. Nutritional improvement was observed and of the psychomotor development after the introduction of a diet free of proteins and leaning with supplements of vitamins.},
 year = {2022}
}

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TY  - JOUR
T1  - Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey
AU  - Raquel Parada Benavente
AU  - Antonia del Valle Leyva
AU  - Isel Aguero Mesa
Y1  - 2022/01/15
PY  - 2022
N1  - https://doi.org/10.11648/j.jfns.20221001.12
DO  - 10.11648/j.jfns.20221001.12
T2  - Journal of Food and Nutrition Sciences
JF  - Journal of Food and Nutrition Sciences
JO  - Journal of Food and Nutrition Sciences
SP  - 8
EP  - 13
PB  - Science Publishing Group
SN  - 2330-7293
UR  - https://doi.org/10.11648/j.jfns.20221001.12
AB  - Justification: The acidemia propionica (AP) is one of the most frequent organic acidemias constitutes inside the congenital errors of the metabolism (CEM). The organic acidemias originates of congenital enzymatic defects that affect the catabolism of the ramified amino acids (AACR) valina, leucina, and isoleucina. In the case of the AP, the molecular damage resides in the deficiency of the activity carboxilasa of the propionil-CoA: an enzyme mitocondrial biotina-clerk that catalyzes the propionil-CoA transformation in metilmanolil-CoA, metabolic step that makes possible the degradation of the AACR valina and isoleucina, as well as of the sulfurated metionina and treonina. The precocious diagnosis of the AP is important to prevent the mental delay and the affected boy's death. Objective: To present the case of preescolar with diagnostic of AP from the birth with favorable evolution, in spite of their multiple revenues with secondary states of extreme graveness to disproportionates. Clinical case: Patient of four years of age that began to present rejection to the foods, vomits and retard of the psychomotor development from the birth. The first revenues were motivated by dehydrations and severe metabolic acidosis, with neurological manifestations that took it to the coma in an opportunity. She was carried out the diagnosis of AP and doctors began the necessary and correct dietary treatment. Conclusions: Before a patient with neurological manifestations that could made a mistake with a sharp intoxication in the stage neonatal, accompanied by vomits, retard of the growth, metabolic acidosis of not very clear cause, it should be suspected the acidemia or aciduria propionica or any other of the CEM. Nutritional improvement was observed and of the psychomotor development after the introduction of a diet free of proteins and leaning with supplements of vitamins.
VL  - 10
IS  - 1
ER  -

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