Inborn Errors of Metabolism-Clinical Findings and Laboratory Tests at the Children’s Medical Center, Tehran, Iran

Background: Inborn errors of metabolism (IEM) are disorders caused by genetic mutations of the normal metabolic pathways.
Objectives: The aim of this study was to investigate clinical findings and laboratory tests for IEMs to determine a proper clinical and laboratorial approach to these disorders.
Methods: This descriptive study involved 180 patients with suspected IEM at the children’s medical center (CHM) in Tehran. The patients’ information was recorded in special forms, and three levels of examinations were performed. Data were subjected to frequency, percent, and chi square tests using SPSS version 17.
Results: The study sample included 87 (48.3%) female patients and 93 (51.7%) male patients. The most common (20%) clinical presentation of patients with IEMs was poor feeding or failure to thrive, and the frequency of the condition in children younger than age 1 year was approximately 35%. Eighty percent of patients received a definitive diagnosis by the first and second level of examination. The most common (17%) disorders were proponic acidemia, methylmalonic acidemia (14%), and urea cycle disorder (14%).
Conclusions: Considering the non-specific primary presentation of IEMs and the importance of clinical diagnosis other than specific laboratory tests, it is necessary to develop a general guide for an approach to IEM that provides appropriate management for high-risk families and infants.