Neonatal Propionic Acidemia: A Case Report in the Sri Lanka

Manori Priyadarshani; Kapilani Withanaarachchi; Chathurini Ariyarathna

doi:doi:10.11648/j.ajim.20231103.11

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Neonatal Propionic Acidemia: A Case Report in the Sri Lanka

Manori Priyadarshani, Kapilani Withanaarachchi, Chathurini Ariyarathna

Published in American Journal of Internal Medicine (Volume 11, Issue 3)

Received: 13 October 2022 Accepted: 31 October 2022 Published: 22 May 2023

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Abstract

Propionic acidemia (aciduria) is a rare autosomal recessive inherited metabolic disorder that is caused by a defective form of the propionyl-coenzyme A (COA) carboxylase enzyme, which results in the accumulation of propionic acid. If the patient is having conditions with increased metabolic demand followed by catabolism, they can present as acute deterioration. Clinical features usually start shortly after birth, and rare cases are present in young adulthood. This disorder most commonly is characterized by episodic decompensation with dehydration, lethargy, nausea, and vomiting. Early identification and initial management are crucial to prevent the mortality and morbidity of patients. Our case is the first baby of consanguineous parents, presented with vomiting, Poor feeding, and severe dehydration on day four of life. In developed countries, early detection is done with newborn screening, but in Sri Lanka like third world countries it is not possible due to poor resources. The take-home message is if a newborn who is a product of consanguineous parents presented with non-specific symptoms, always think about the metabolic disorders which need urgent intervention to save the child from acute and long-term complications.

Published in	American Journal of Internal Medicine (Volume 11, Issue 3)
DOI	10.11648/j.ajim.20231103.11
Page(s)	32-34
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), 2024. Published by Science Publishing Group

Keywords

Propionic Acidemia, Propionyl-Coenzyme a Carboxylase Deficiency, Autosomal Recessive Metabolic Disorder, Sri Lanka

References

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[2]	Baumgartner MR, Horster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014; 9: 130.
[3]	Inoue S, Krieger I, Sarnaik A. Inhibition of bone marrow stem cell growth in vitro by methylmalonic acid. Pediatr Res. 1981; 15: 95–98.
[4]	Shchelochkov OA, Carrillo N, Venditti C. Propionic acidaemia. 2012 May 17 [Updated 2016 Oct 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
[5]	Sindgikar SP, Rao S, Shenoy RD, Kamath N. Biochemical basis of heterogenicity in acute presentations of propionic academia. Indian Journal of Clinical Biochemistry 2013; 28 (1): 95-97.
[6]	Fenton WA, Rosenberg LE. Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1995: 1423-49.
[7]	Ashutosh Marwah S. Ramji, Propionic acidemia in the newborn, case report, Indian paediatrics 1997; 34: 639-41.
[8]	Kimberly A. Chapman a, Andrea Gropman a, Erin MacLeod, et al, Acute management of propionic acidemia, Molecular Genetics and Metabolism 105 (2012) 16-25.
[9]	Barry Wolf, Richmond, Va, Y. Edward Hsia, B. M, et al, Propionic acidemia: A clinical update, The journal of pediatrics, 99; 6: 835-846.
[10]	H. Eugene Harker, John D. Emhardt, and Bryan E. Hainline, Propionic Acidemia in a Four-Month-Old Male: A Case Study and Anesthetic Implications, Anesth Analg 2000; 91: 309-311.
[11]	Loren Pena, Jill Franks, Kimberly A Chapman, et al, Natural history of propionic acidemia, Mol Genet Metab 2012 Jan; 105 (1): 5-9.
[12]	Shchelochkov OA, Manoli I, Sloan JL, Ferry S, Pass A, Van Ryzin C, et al. chronic kidney disease in propionic acidemia. Genet Med. 2019; 21 (12): 2830–5.
[13]	Oleg A Shchelochkov, Nuria Carrillo et al, propionic acidemia, GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022.
[14]	Niranjalee Samanthika Egodawaththe, Sandya Bandara et al, A Novel mutation in PCCB Gene causing neonatal onset propionic acidaemia in a Sri Lankan patient, Sri Lanka Journal of Child Health, 2021; 50 (1): 153-155.
[15]	Felicia J Gliksman, DO, MPH; Chief Editor: Helmi L Lutsep, MD, et al, Propionic Acidemia, https://emedicine.medscape.com/article/1161910-overview
[16]	A Mobarak, S Stockler, R Salvarinova et al, Long term follow-up of the dietary intake in propionic acidemia, Mol Genet Metab Rep, 2021 Apr 19; 27: 100757.
[17]	Steven Yannicelli, Phyllis B Acosta, Antonio Velazquez, et al, Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food, Mol Genet Metab Sep-Oct 2003; 80 (1-2): 181-8.

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APA Style

Manori Priyadarshani, Kapilani Withanaarachchi, Chathurini Ariyarathna. (2023). Neonatal Propionic Acidemia: A Case Report in the Sri Lanka. American Journal of Internal Medicine, 11(3), 32-34. https://doi.org/10.11648/j.ajim.20231103.11

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ACS Style

Manori Priyadarshani; Kapilani Withanaarachchi; Chathurini Ariyarathna. Neonatal Propionic Acidemia: A Case Report in the Sri Lanka. Am. J. Intern. Med. 2023, 11(3), 32-34. doi: 10.11648/j.ajim.20231103.11

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AMA Style

Manori Priyadarshani, Kapilani Withanaarachchi, Chathurini Ariyarathna. Neonatal Propionic Acidemia: A Case Report in the Sri Lanka. Am J Intern Med. 2023;11(3):32-34. doi: 10.11648/j.ajim.20231103.11

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@article{10.11648/j.ajim.20231103.11,
  author = {Manori Priyadarshani and Kapilani Withanaarachchi and Chathurini Ariyarathna},
  title = {Neonatal Propionic Acidemia: A Case Report in the Sri Lanka},
  journal = {American Journal of Internal Medicine},
  volume = {11},
  number = {3},
  pages = {32-34},
  doi = {10.11648/j.ajim.20231103.11},
  url = {https://doi.org/10.11648/j.ajim.20231103.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajim.20231103.11},
  abstract = {Propionic acidemia (aciduria) is a rare autosomal recessive inherited metabolic disorder that is caused by a defective form of the propionyl-coenzyme A (COA) carboxylase enzyme, which results in the accumulation of propionic acid. If the patient is having conditions with increased metabolic demand followed by catabolism, they can present as acute deterioration. Clinical features usually start shortly after birth, and rare cases are present in young adulthood. This disorder most commonly is characterized by episodic decompensation with dehydration, lethargy, nausea, and vomiting. Early identification and initial management are crucial to prevent the mortality and morbidity of patients. Our case is the first baby of consanguineous parents, presented with vomiting, Poor feeding, and severe dehydration on day four of life. In developed countries, early detection is done with newborn screening, but in Sri Lanka like third world countries it is not possible due to poor resources. The take-home message is if a newborn who is a product of consanguineous parents presented with non-specific symptoms, always think about the metabolic disorders which need urgent intervention to save the child from acute and long-term complications.},
 year = {2023}
}

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TY  - JOUR
T1  - Neonatal Propionic Acidemia: A Case Report in the Sri Lanka
AU  - Manori Priyadarshani
AU  - Kapilani Withanaarachchi
AU  - Chathurini Ariyarathna
Y1  - 2023/05/22
PY  - 2023
N1  - https://doi.org/10.11648/j.ajim.20231103.11
DO  - 10.11648/j.ajim.20231103.11
T2  - American Journal of Internal Medicine
JF  - American Journal of Internal Medicine
JO  - American Journal of Internal Medicine
SP  - 32
EP  - 34
PB  - Science Publishing Group
SN  - 2330-4324
UR  - https://doi.org/10.11648/j.ajim.20231103.11
AB  - Propionic acidemia (aciduria) is a rare autosomal recessive inherited metabolic disorder that is caused by a defective form of the propionyl-coenzyme A (COA) carboxylase enzyme, which results in the accumulation of propionic acid. If the patient is having conditions with increased metabolic demand followed by catabolism, they can present as acute deterioration. Clinical features usually start shortly after birth, and rare cases are present in young adulthood. This disorder most commonly is characterized by episodic decompensation with dehydration, lethargy, nausea, and vomiting. Early identification and initial management are crucial to prevent the mortality and morbidity of patients. Our case is the first baby of consanguineous parents, presented with vomiting, Poor feeding, and severe dehydration on day four of life. In developed countries, early detection is done with newborn screening, but in Sri Lanka like third world countries it is not possible due to poor resources. The take-home message is if a newborn who is a product of consanguineous parents presented with non-specific symptoms, always think about the metabolic disorders which need urgent intervention to save the child from acute and long-term complications.
VL  - 11
IS  - 3
ER  -

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Author Information

Manori Priyadarshani

General Paediatric Ward, Teaching Hospital Karapitiya Galle, Sri Lanka
Kapilani Withanaarachchi

Neonatal Intensive Care Unit, Teaching Hospital Karapitiya, Galle, Sri Lanka
Chathurini Ariyarathna

Cardiothoracic Intensive Care Unit, Lady Ridgeway Hospital, Colombo, Sri Lanka

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Plain Text BibTeX RIS

APA Style

Manori Priyadarshani, Kapilani Withanaarachchi, Chathurini Ariyarathna. (2023). Neonatal Propionic Acidemia: A Case Report in the Sri Lanka. American Journal of Internal Medicine, 11(3), 32-34. https://doi.org/10.11648/j.ajim.20231103.11

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ACS Style

Manori Priyadarshani; Kapilani Withanaarachchi; Chathurini Ariyarathna. Neonatal Propionic Acidemia: A Case Report in the Sri Lanka. Am. J. Intern. Med. 2023, 11(3), 32-34. doi: 10.11648/j.ajim.20231103.11

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AMA Style

Manori Priyadarshani, Kapilani Withanaarachchi, Chathurini Ariyarathna. Neonatal Propionic Acidemia: A Case Report in the Sri Lanka. Am J Intern Med. 2023;11(3):32-34. doi: 10.11648/j.ajim.20231103.11

Copy | Download

@article{10.11648/j.ajim.20231103.11,
  author = {Manori Priyadarshani and Kapilani Withanaarachchi and Chathurini Ariyarathna},
  title = {Neonatal Propionic Acidemia: A Case Report in the Sri Lanka},
  journal = {American Journal of Internal Medicine},
  volume = {11},
  number = {3},
  pages = {32-34},
  doi = {10.11648/j.ajim.20231103.11},
  url = {https://doi.org/10.11648/j.ajim.20231103.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajim.20231103.11},
  abstract = {Propionic acidemia (aciduria) is a rare autosomal recessive inherited metabolic disorder that is caused by a defective form of the propionyl-coenzyme A (COA) carboxylase enzyme, which results in the accumulation of propionic acid. If the patient is having conditions with increased metabolic demand followed by catabolism, they can present as acute deterioration. Clinical features usually start shortly after birth, and rare cases are present in young adulthood. This disorder most commonly is characterized by episodic decompensation with dehydration, lethargy, nausea, and vomiting. Early identification and initial management are crucial to prevent the mortality and morbidity of patients. Our case is the first baby of consanguineous parents, presented with vomiting, Poor feeding, and severe dehydration on day four of life. In developed countries, early detection is done with newborn screening, but in Sri Lanka like third world countries it is not possible due to poor resources. The take-home message is if a newborn who is a product of consanguineous parents presented with non-specific symptoms, always think about the metabolic disorders which need urgent intervention to save the child from acute and long-term complications.},
 year = {2023}
}

Copy | Download

TY  - JOUR
T1  - Neonatal Propionic Acidemia: A Case Report in the Sri Lanka
AU  - Manori Priyadarshani
AU  - Kapilani Withanaarachchi
AU  - Chathurini Ariyarathna
Y1  - 2023/05/22
PY  - 2023
N1  - https://doi.org/10.11648/j.ajim.20231103.11
DO  - 10.11648/j.ajim.20231103.11
T2  - American Journal of Internal Medicine
JF  - American Journal of Internal Medicine
JO  - American Journal of Internal Medicine
SP  - 32
EP  - 34
PB  - Science Publishing Group
SN  - 2330-4324
UR  - https://doi.org/10.11648/j.ajim.20231103.11
AB  - Propionic acidemia (aciduria) is a rare autosomal recessive inherited metabolic disorder that is caused by a defective form of the propionyl-coenzyme A (COA) carboxylase enzyme, which results in the accumulation of propionic acid. If the patient is having conditions with increased metabolic demand followed by catabolism, they can present as acute deterioration. Clinical features usually start shortly after birth, and rare cases are present in young adulthood. This disorder most commonly is characterized by episodic decompensation with dehydration, lethargy, nausea, and vomiting. Early identification and initial management are crucial to prevent the mortality and morbidity of patients. Our case is the first baby of consanguineous parents, presented with vomiting, Poor feeding, and severe dehydration on day four of life. In developed countries, early detection is done with newborn screening, but in Sri Lanka like third world countries it is not possible due to poor resources. The take-home message is if a newborn who is a product of consanguineous parents presented with non-specific symptoms, always think about the metabolic disorders which need urgent intervention to save the child from acute and long-term complications.
VL  - 11
IS  - 3
ER  -

Copy | Download