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Inborn Errors of Metabolism in Iran: First Report From Iran Metabolic Registry Publisher



Abbasi F1 ; Abdolahpour S1 ; Mohsenipour R1 ; Rabbani A1 ; Talea A1 ; Darabi M1 ; Mohebbi A1 ; Khazdouz M1 ; Setoodeh A1 ; Rostami P1 ; Sayarifard F1 ; Zamanfar D2 ; Alijanpour M3 ; Madani S4 Show All Authors
Authors
  1. Abbasi F1
  2. Abdolahpour S1
  3. Mohsenipour R1
  4. Rabbani A1
  5. Talea A1
  6. Darabi M1
  7. Mohebbi A1
  8. Khazdouz M1
  9. Setoodeh A1
  10. Rostami P1
  11. Sayarifard F1
  12. Zamanfar D2
  13. Alijanpour M3
  14. Madani S4
  15. Maleki YHZ1
  16. Izadi H1
  17. Solgi F1
  18. Naeini MA1
Show Affiliations
Authors Affiliations
  1. 1. Growth and Development Research Center, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Pediatric Endocrinology, Diabetes Research Center of Mazandaran, Mazandaran University of Medical Sciences, Sari, Iran
  3. 3. Non-Communicable Pediatric Diseases Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran
  4. 4. Diabetes Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran

Source: Iranian Journal of Pediatrics Published:2023


Abstract

Background: Inborn errors of metabolism (IEMs) comprise over 1,000 disorders. Wide geographical and racial variations in the global birth prevalence and their inheritance patterns have been reported by epidemiological studies. Methods: Iran’s Metabolic Registry was launched in March 2017. All patients diagnosed with IEM registered in the Iran Metabolic Registry from 2017 to July 2022 were included in this study. Results: During the five years, 1,233 patients were recorded in the database. Due to missing data, 320 patients were excluded from the study. Of the 913 registered patients, 402 were female, and 511 were male. The median age of registered patients was 10.3 years (one week to 48.3 years). The most prevalent group of IEMs was amino acid disorders, with 596 (66.6%) patients. The mortality rate of the patients was 36.5%. Conclusions: This study represents the first report from the IEM registry. A comprehensive registry of IEMs for collecting patient data will help clinicians with more accurate diagnoses of the disorders, monitoring, and follow-up. Furthermore, by estimating the burden of IEMs, the healthcare system and government could accurately assess the medication and equipment needed. © 2023, Author(s).