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

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.