Emergency department presentations in inherited metabolic disorders: factors determining acute metabolic decompensation and the need for intensive care

Serap Ata; İbrahim Taş

doi:10.47582/jompac.1865417

Emergency department presentations in inherited metabolic disorders: factors determining acute metabolic decompensation and the need for intensive care

Abstract

Aims: To evaluate the clinical characteristics of emergency department visits in children diagnosed with inherited metabolic disorders (IMD) and to investigate the factors determining acute metabolic decompensation and intensive care unit (ICU) requirement. Methods: This retrospective observational study included 54 patients who presented to the pediatric emergency department between 2020-2025 and had a prior diagnosis of IMD. Patients' demographic data, clinical findings, laboratory parameters, and clinical outcomes were recorded. Independent factors associated with acute metabolic decompensation and ICU admission were determined using multivariate logistic regression analysis. Results: The median age of patients was 24 months (IQR: 12-84), and 64.81% were male. The most common diagnoses were organic acidemias (35.19%) and glycogen storage diseases (27.78%). Acute metabolic decompensation was detected in 70.37% of patients. In multivariate analysis, malnutrition (OR=2622.24; p=0.022), high anion gap (OR=1.88; p=0.043), and high urea level (OR=1.41; p=0.042) were identified as independent risk factors for acute decompensation. 18.52% of patients were admitted to the ICU. Acute onset of a movement disorder (ataxia, dystonia etc.) (OR=28.35; p=0.015) and high ammonia level (OR=1.02; p=0.020) were independent risk factors for ICU requirement. Conclusion: In emergency presentations of children with IMDs, nutritional deficiencies, signs of metabolic acidosis, and hyperammonemia should be recognized early and treated aggressively. Movement disorders and elevated ammonia levels are important indicators of the need for ICU admission.

Keywords

Supporting Institution

none

Project Number

Date: 20 November 2025, Number: B.10.1.TKH.4.34.H.GP.0.01/429)

Ethical Statement

This retrospective observational study was conducted at the Ümraniye Training and Research Hospital Pediatric Emergency Department between 2020 and 2025. The study was approved by the Istanbul Health Sciences University Ümraniye Training and Research Hospital Clinical Research and Ethics Committee (Date: 20 November 2025, Number: B.10.1.TKH.4.34.H.GP.0.01/429).and was conducted in accordance with the principles of the Declaration of Helsinki.

Thanks

NONE

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Details

Primary Language

English

Subjects

Infant and Child Health, Metabolic Medicine

Journal Section

Research Article

Authors

Serap Ata ^*
0009-0002-1503-8637
Türkiye

İbrahim Taş
0000-0001-7261-6590
Türkiye

Publication Date

February 20, 2026

Submission Date

January 16, 2026

Acceptance Date

February 7, 2026

Published in Issue

Year 2026 Volume: 7 Number: 1

DOI

https://doi.org/10.47582/jompac.1865417

IZ

https://izlik.org/JA28SR47KB

Cite

RIS / Bibtex

APA

Ata, S., & Taş, İ. (2026). Emergency department presentations in inherited metabolic disorders: factors determining acute metabolic decompensation and the need for intensive care. Journal of Medicine and Palliative Care, 7(1), 140-147. https://doi.org/10.47582/jompac.1865417

AMA

1.Ata S, Taş İ. Emergency department presentations in inherited metabolic disorders: factors determining acute metabolic decompensation and the need for intensive care. J Med Palliat Care / JOMPAC / jompac. 2026;7(1):140-147. doi:10.47582/jompac.1865417

Chicago

Ata, Serap, and İbrahim Taş. 2026. “Emergency Department Presentations in Inherited Metabolic Disorders: Factors Determining Acute Metabolic Decompensation and the Need for Intensive Care”. Journal of Medicine and Palliative Care 7 (1): 140-47. https://doi.org/10.47582/jompac.1865417.

EndNote

Ata S, Taş İ (February 1, 2026) Emergency department presentations in inherited metabolic disorders: factors determining acute metabolic decompensation and the need for intensive care. Journal of Medicine and Palliative Care 7 1 140–147.

IEEE

[1]S. Ata and İ. Taş, “Emergency department presentations in inherited metabolic disorders: factors determining acute metabolic decompensation and the need for intensive care”, J Med Palliat Care / JOMPAC / jompac, vol. 7, no. 1, pp. 140–147, Feb. 2026, doi: 10.47582/jompac.1865417.

ISNAD

Ata, Serap - Taş, İbrahim. “Emergency Department Presentations in Inherited Metabolic Disorders: Factors Determining Acute Metabolic Decompensation and the Need for Intensive Care”. Journal of Medicine and Palliative Care 7/1 (February 1, 2026): 140-147. https://doi.org/10.47582/jompac.1865417.

JAMA

1.Ata S, Taş İ. Emergency department presentations in inherited metabolic disorders: factors determining acute metabolic decompensation and the need for intensive care. J Med Palliat Care / JOMPAC / jompac. 2026;7:140–147.

MLA

Ata, Serap, and İbrahim Taş. “Emergency Department Presentations in Inherited Metabolic Disorders: Factors Determining Acute Metabolic Decompensation and the Need for Intensive Care”. Journal of Medicine and Palliative Care, vol. 7, no. 1, Feb. 2026, pp. 140-7, doi:10.47582/jompac.1865417.

Vancouver

1.Serap Ata, İbrahim Taş. Emergency department presentations in inherited metabolic disorders: factors determining acute metabolic decompensation and the need for intensive care. J Med Palliat Care / JOMPAC / jompac. 2026 Feb. 1;7(1):140-7. doi:10.47582/jompac.1865417