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Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort

  • Halil Tuna Akar ORCID logo EMAIL logo , Ayça Burcu Kahraman ORCID logo , Yılmaz Yıldız ORCID logo , Berat Baran ORCID logo , Kısmet Çıkı ORCID logo , Turgay Coşkun ORCID logo , Didem Yücel Yılmaz ORCID logo , Rıza Köksal Özgül ORCID logo , Hayrettin Hakan Aykan ORCID logo , Ali Dursun ORCID logo , Serap Sivri ORCID logo and Ayşegül Tokatlı ORCID logo
Published/Copyright: February 17, 2025
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 38 Issue 4

Abstract

Objectives

Propionic acidemia (PA) is an autosomal recessive multisystem disorder caused by the deficiency of propionyl-CoA carboxylase, encoded by PCCA and PCCB genes. This retrospective study presents the clinical and laboratory characteristics of PA patients followed up in our center.

Methods

Included in the study were 50 patients diagnosed in a single center with propionic acidemia between 1984 and 2020, whose electronic and written hospital records regarding demographic, clinical, and laboratory features, along with diagnostic and therapeutic approaches, were reviewed retrospectively.

Results

This cohort had a median age at diagnosis of 18 days and 91.1 % (n=41) were born at term. Consanguinity was notably prevalent (91.1 %), and a family history of PA was reported in 14 % of cases. No significant relationships were observed between clinical and laboratory parameters and mortality. Laboratory findings at the time of diagnosis revealed significant metabolic abnormalities, including low levels of free carnitine, elevated C3 propionyl carnitine, and varied amino acid imbalances. Twenty-three patients exhibited developmental delay and/or intellectual disability. Brain magnetic resonance imaging unveiled white matter involvement and ventricular dilatation in 9/25 patients. Furthermore, dilated cardiomyopathy (26 %) was noted in patients who had cardiac assessments. Among the study cohort, 27 patients survived, 23 patients died during follow-up. No significant relationships were observed between clinical and laboratory parameters and mortality.

Conclusions

Despite improvements in the understanding of the pathophysiology and advances in diagnostic and treatment approaches, propionic acidemia and its long-term complications can still lead to severe consequences. This comprehensive evaluation offers valuable insights into the multifaceted nature of PA.

Keywords: inborn errors of metabolism; organic academia; propionic academia
Corresponding author: Halil Tuna Akar, MD, Pediatric Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye, E-mail:

Acknowledgments

We extend our gratitude to Prof. Brian Fowler who did PCC enzyme analyses. We also wish to thank our patients and their families for their participation and cooperation during their follow-ups. Additionally, we acknowledge the dedicated efforts of all physicians and healthcare professionals who have contributed to the medical care of our PA patients.

  1. Research ethics: Hacettepe University Non Interventional Ethics Committee approved the study (GO-21/878, 29 June 2021).

  2. Informed consent: Not applicable.

  3. Author contributions: The authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  4. Use of Large Language Models, AI and Machine Learning Tools: None declared.

  5. Conflict of interest: The authors state no conflict of interest.

  6. Research funding: None declared.

  7. Data availability: The raw data can be obtained on request from the corresponding author.

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Supplementary Material

This article contains supplementary material (https://doi.org/10.1515/jpem-2024-0366).

Received: 2024-08-01
Accepted: 2025-01-31
Published Online: 2025-02-17
Published in Print: 2025-04-28

© 2025 Walter de Gruyter GmbH, Berlin/Boston

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https://doi.org/10.1515/jpem-2024-0366
Keywords for this article
inborn errors of metabolism; organic academia; propionic academia

Articles in the same Issue

  1. Frontmatter
  2. Original Articles
  3. Diabetes distress, depression, and future glycemic control among adolescents with type 1 diabetes
  4. Is oxytocin related to psychiatric symptoms in adolescents with obesity?
  5. Associations between body mass index and sleep duration in Brazilian children and adolescents: the moderating role of screen time
  6. The transfer of care experience in young adults with type 1 diabetes
  7. Assessing the efficacy of a hybrid closed loop system in a racial-ethnic minority cohort of children and adolescents with type 1 diabetes
  8. Do children with type 1 diabetes mellitus remain protected against hepatitis B?
  9. Influence of excess weight on metabolic risk factors in Argentinian preschool children
  10. Causal associations between childhood obesity and delayed puberty or height: a bidirectional two-sample Mendelian randomization study
  11. Differentiating true precocious puberty and puberty variants in consecutive 275 girls: a single center experience
  12. Development of bone mineral density and content in children with cerebral palsy: a retrospective, longitudinal study
  13. Insights in non-CAH pediatric primary adrenal insufficiency: a single-center experience from India
  14. Effect of empagliflozin treatment on laboratory and clinical findings of patients with glycogen storage disease type Ib: first study from Türkiye
  15. Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort
  16. Short Communication
  17. The impact of the COVID-19 pandemic on DKA severity in Black and White pediatric patients
  18. Case Reports
  19. Evinacumab as an adjunct to lipid apheresis in an infant with homozygous familial hypercholesterolemia
  20. DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report
  21. Moebius syndrome and hypopituitarism: a case of multiple pituitary hormone deficiency and revision of the literature
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