Objective: Inborn errors of metabolism (IEM) are a rare, inherited, heterogeneous group of diseases that are mostly symptomatic in the pediatric age group. Late diagnosis and delays in intervention can result in acute metabolic decompensation, progressive neurological damage, or death. IEM patients are responsible for significantly increased morbidity and mortality in intensive care units. Rapid, aggressive, and supportive treatment in pediatric intensive care units can reduce morbidity and mortality in IEM patients.
Method: Patients diagnosed with IEM and/or diagnosed during hospitalization in the tertiary Pediatric Intensive Care Unit (PICU) between February 2021 and November 2022 were retrospectively analyzed. During this period, 962 hospitalized patients were screened and patients with a diagnosis of IEM were included in the study. Demographic data, laboratory analysis, treatment characteristics, PICU, and length of hospital stay were recorded retrospectively.
Results: Twenty-three patients diagnosed with IEM were included in the study. The mean age of the patients was 48 months, and the majority of participants were female. 5/23 patients were followed up with the diagnosis of intoxication type, 10/23 patients with energy metabolism disorder type, and 8/23 patients with complex molecule disorder type. The median lactate level was (6.7 mmol/L, range: 0.8-32) higher in patients (7/23) who died in the PICU than in those who survived (p=0.016). Continuous renal replacement therapy was used in 6/23 (26%) patients, and invasive mechanical ventilation was applied to 3/23 (56.5%) patients.
Conclusion: IEM patients are challenging for pediatric intensive care professionals at the diagnostic and therapeutic levels. Undiagnosed patients at the time of admission to the PICU require a high degree of suspicion for prompt diagnosis and treatment. It is thought that the newborn screening program should be expanded. Aggressive and supportive treatment and specific metabolic disease treatment can be lifesaving, but these patients still have a high mortality rate.