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

Year 2026, Volume: 7 Issue: 1, 140 - 147, 20.02.2026

Serap Ata , İbrahim Taş

https://izlik.org/JA28SR47KB

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

Metabolism inborn errors , metabolic decompensation , emergency service hospital , intensive care units , child , organic acidemias , hyperammonemia

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.

Supporting Institution

none

Project Number

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

Thanks

NONE

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