Document Type : Original Article

Authors

1 Department of Pediatric Endocrinology and Metabolism, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

2 Neonatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

3 Pediatric Department, Shiraz University of Medical Sciences, Shiraz, Iran.

4 Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

5 Student Research Committee, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

Abstract

Abstract
Background: Inborn errors of metabolism (IEM) are rare genetic disorders that usually cause the disease by blocking a metabolic pathway. Delayed diagnosis is usually due to nonspecific manifestations. In this study, we aim to evaluate the demographic and clinical characteristics of pediatric patients with IEM admitted in Nemazi hospital, a referral center in southern Iran.
Methods: All 1-month- to 18-year-old patients who were admitted in the pediatric ward in Nemazi hospital, a referral center in southern Iran, with the diagnosis of IEM were enrolled. Patients with incomplete information were excluded. We collect demographic and clinical data including age, sex, parents’ consanguinity, family history of IEM, presenting symptoms, number of hospitalization, age of onset, and diagnosis of the disease. All the data were entered into SPSS ver.22 and analyzed.
Results: 200 patients were enrolled in the study. 53.5% were male and 46.5% female. The most clinical symptoms were lethargy and vomiting. The most prevalent IEM were aminoacidopathies, organic acidemia, and mitochondrial disease. Consanguinity was seen in 57.5% of them, while the family history of metabolic diseases was observed in 16.5%. There was a statistically significant relationship between consanguinity and the type of the disease.
Conclusion: The clinical symptoms of IEM are nonspecific and may be misdiagnosed as other diseases like septicemia. We should always keep IEM in mind to detect the disease earlier and prevent significant morbidities and mortality by appropriate timely treatment. Due to the prevalence of consanguinity marriage in Iran, we should also consider metabolic screening.

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