A retrospective study of small molecule disorder types of metabolism in paediatric patients in intensive care

Abstract

No statistics on small molecule disorders of IEM are available in Egypt. The aim of this retrospective study was to analyse the epidemiological and clinical data, final diagnoses and clinical outcomes of patients admitted to the paediatric intensive care unit (PICU) at Alexandria University Children's Hospital with a suspected or confirmed diagnosis of small molecule disorders. Methods In this 5-year retrospective study, we collected medical records of all patients admitted to the PICU at El-Shatby Children's Hospital, a tertiary care teaching hospital affiliated to Alexandria University (serving 4 governorates comprising 14 million people), from 1 January 2010 to 31 December 2014 (n = 1417). Ages ranged from 1 month to 6 years. The policy of our hospital is that all cases of small molecule disorders presented at the emergency room are admitted to PICU. Inclusion criteria were: confirmed diagnosis of small molecule disorders and suspected diagnosis of small molecule disorders at the time of PICU admission or during PICU stay, with no subsequent confirmation of diagnosis (according to PICU protocol). The exclusion criterion was previous diagnosis of small molecule disorders in patients admitted to the PICU during the study period. Out of 1417 PICU admissions, 34 patients (2.4%) had a suspected or confirmed small molecule disorder.

Organic acidurias in Egyptian children: The urge for high‐risk screening

“…In the current study, high rates of consanguinity were encountered in patients with OAs. Similarly, high rates of consanguinity were reported in the other Egyptian studies 4,10,14,21,22 . This finding had been also reported in other studies in the Middle Eastern countries or countries with similar cultures and traditions 20,21 .…”

“…This result confirms that OAs are distinctly frequent disorders among the IEMs 2 particularly in the Middle Eastern populations where high consanguinity provides a genetic risk for OAs 20 . The high positive rate of OAs (34%) detected among the critically ill patients (group II) was also observed in similar Egyptian studies, 14,21,22 which is higher than other PICU studies in other countries 15–17 . Such findings warrant the consideration of organic acids as a potential diagnosis in any child with any unexplained or refractory disease especially with the PICU admission 17 …”

“…27 The laboratory techniques essential for the diagnosis of metabolic diseases such as GC-MS are expensive and far beyond the financial ability of developing countries. 14 However, our study confirmed the importance of integration of such technologies in specialized centers to achieve this diagnosis and to start prompt therapy. A lack of molecular testing for the patients confirmed with IEMs was a limitation of the current study due to limited budget.…”

“…Making a diagnosis of classic organic aciduria requires a high level of clinical suspicion and well equipped laboratories 27 . The laboratory techniques essential for the diagnosis of metabolic diseases such as GC–MS are expensive and far beyond the financial ability of developing countries 14 . However, our study confirmed the importance of integration of such technologies in specialized centers to achieve this diagnosis and to start prompt therapy.…”

“…11 Many studies reported that IEMs, and especially OAs, are common among critically ill children admitted to the emergency departments and the pediatric intensive care units (PICUs). [12][13][14][15][16][17] In a study of 139 patients with critical neurological symptoms admitted to the PICU-CUCH, non-traumatic coma constituted 83% of the cases, among which the toxic/metabolic cause accounted for 53% of the cases. 18 However, the exact frequency of OAs among the PICU patients has not been previously studied.…”