Clinical Characteristics of Pediatric Patients with Inborn Errors of Metabolism Admitted to Namazi Hospital, a Tertiary Referral Center in Shiraz, Southern Iran

Abstract

Background: Inborn errors of metabolism (IEMs) are rare genetic disorders that usually cause disease by blocking a metabolic pathway. Delayed diagnosis often occurs due to nonspecific symptoms. This study assesses the demographic and clinical characteristics of pediatric patients with IEMs admitted to Namazi hospital, a referral center in southern Iran. Methods: All 1-month-old to 18-year-old patients who were admitted to the pediatric ward at Namazi hospital, a referral center in southern Iran, and diagnosed with IEMs were enrolled. Patients with incomplete information were excluded. Comprehensive demographic and clinical data, including age, sex, parental consanguinity, family history of IEM, presenting symptoms, number of hospitalizations, age of onset, and diagnosis of the disease, were collected. All the data were entered into SPSS version 22 and analyzed. Results: Two hundred patients, 53.5% male and 46.5% female, were enrolled in the study. The predominant clinical symptoms observed were lethargy and vomiting. The most prevalent IEMs were aminoacidopathies, organic acidemia, and mitochondrial disease. Consanguinity was found in 57.5% of patients, while a family history of metabolic diseases was observed in 16.5%. A statistically significant association was identified between consanguinity and the type of disease. Conclusion: The clinical symptoms of IEMs are nonspecific and may be misdiagnosed as other diseases, such as septicemia. We should always keep IEMs in mind to detect the disease earlier and prevent significant morbidities and mortality through appropriate and timely treatment. Due to the prevalence of family marriages in Iran, we should also consider metabolic screening.