Inborn Errors of Metabolism in Iran: First Report from Iran Metabolic Registry

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.

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.

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%.

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.