Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit

Abstract

Few studies exist describing resources and care of pediatric patients with inborn errors of metabolism (IEM) admitted to pediatric intensive care unit (PICU). This study aims to characterize the PICU admissions of these patients to provide better diagnostic and therapeutic care in the future. Retrospective analysis of pediatric patients with IEM admitted to the PICU of a tertiary care center at a metabolic referral university hospital from 2009 to 2019 was included. Clinical information and demographic data were collected from PICU clinical records. During this period, 2% (n = 88 admissions, from 65 children) out of 4,459 PICU admissions had clinical features of IEM. The median age was 3 years (range: 3 days–21 years) and 33 were male. Median age at diagnosis was 3 months; 23/65 patients with intoxication disorders, 21/65 with disorders of energy metabolism, 17/65 with disorders of complex molecules, and 4/65 with other metabolic diseases (congenital lipodystrophy, Menkes' disease, hyperammonemia without a diagnosis). From a total of 88 admissions, 62 were due to metabolic decompensation (infection—38, neonatal period decompensation—14, external accident—5, prolonged fasting—2, and therapeutic noncompliance—3) and 26 elective admissions after a scheduled surgery/elective procedure. The most frequent clinical presentations were respiratory failure (30/88) and neurological deterioration (26/88). Mechanical ventilation was required in 30 patients and parenteral nutrition in 6 patients. Extracorporeal removal therapy was required in 16 pediatric patients (12 with maple syrup urine disease and 4 with hyperammonemia) with a median duration of 19 hours. The median length of PICU stay was 3.6 days (3 hours–35 days). Eight patients died during the studied period (cerebral edema—2, massive hemorrhage—5, and malignant arrhythmia—1). Acute decompensation was the main cause of admission in PICU in these patients. The complexity of these diseases requires specialized human and technical resources, with an important impact on the recovery and survival of these patients.

Metabolic encephalopathies in children: A pragmatic diagnostic approach based on literature analysis

“…There were 8 deaths in this group of patients. 4 Results similar to these were also described by Couce et al, who observed 31 cases of patients with IEM out of 1,104 admissions to the pediatric ward over an 8-year period, accounting for 1.63% of all hospitalizations. Of these cases, 18 required intensive care, and 12 patients had a clinical picture of acute encephalopathy that did not require ICU care.…”

“…In a study by Lipari et al, the numbers of patients admitted were 23 and 21, respectively, out of 65 hospitalized for encephalopathy. 4 Similar proportions of patients with IG and EFG are reported in other studies: 5 and 6 out of 11 hospitalized with IEM, respectively 6 and 5 and 4 out of 10 hospitalized with IEM. 1…”

“…In the study by Lipari et al, the average age of patients with IEM hospitalized in the acute-onset state was 3 years (ranging from 3 days old to 21 years), with the average age of diagnosis at 3 months. 4 In the context of acute encephalopathy, from a clinical perspective, it is useful to divide the disease into 2 main groups:…”

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

“…Authors did a commendable job in highlighting the intensive care course and outcome of children with IEMs. 1 We would like to highlight few points pertinent to our setting. In developing countries like India, there is lack of universal neonatal testing for IEMs.…”

“…We read with interest the recently published article titled "Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit" by Lipari et al 1 and want to make few important comments. Authors enrolled 65 cases of inborn errors of metabolism (IEMs) with 88 admission to a pediatric intensive care unit (PICU) in Portugal over a period 11 years (2009-2019) accounting for 2% of PICU admissions.…”