Inborn Errors of Metabolism in Pediatric Intensive Care Unit: Much More to Understand

Awasthi, Puspraj; Angurana, Suresh Kumar

doi:10.1055/s-0041-1731022

J Pediatr Intensive Care

2021

DOI: 10.1055/s-0041-1731022

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Inborn Errors of Metabolism in Pediatric Intensive Care Unit: Much More to Understand

Puspraj Awasthi

Suresh Kumar Angurana

Abstract: Letter to the Editor 355This document was downloaded for personal use only. Unauthorized distribution is strictly prohibited.

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“…We would also like to thank Dr. Puspraj Awasthi and Dr. Suresh Angurana for their interest in our article and for their comments. 1 In their letter to the editor, the authors mentioned that in India there is no universal screening for inborn errors of metabolism (IEM) and in some regions there is lack of testing facilities. In fact, our setting is quite different, as in Portugal the universal screening is free and was started in 1979 with phenylketonuria screening.…”

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Response to the Letter to the Editor: Inborn Errors in Pediatric Intensive Care Unit: Much More to Understand

Pinto

Shchomak

Boto

et al. 2021

J Pediatr Intensive Care

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Response to the Letter to the Editor: Inborn Errors in Pediatric Intensive Care Unit: Much More to Understand

Pinto

Shchomak

Boto

et al. 2021

J Pediatr Intensive Care

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The prevalence, results, and treatments of the patients followed up with a diagnosis of metabolic disease in the pediatric intensive care unit: A single-center experience

Evren,

Bozacı

2023

Trends in Pediatrics

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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.

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Inborn Errors of Metabolism in Pediatric Intensive Care Unit: Much More to Understand

Abstract: Letter to the Editor 355This document was downloaded for personal use only. Unauthorized distribution is strictly prohibited.

Cited by 2 publications

References 5 publications

Response to the Letter to the Editor: Inborn Errors in Pediatric Intensive Care Unit: Much More to Understand

Response to the Letter to the Editor: Inborn Errors in Pediatric Intensive Care Unit: Much More to Understand

The prevalence, results, and treatments of the patients followed up with a diagnosis of metabolic disease in the pediatric intensive care unit: A single-center experience

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