Abstract

CONTEXT: Aminoacidopathies refer to defects in protein synthesis pathways which result in a range of biochemical disorders and clinical presentations. The enzyme defects in intermediate metabolic pathways lead to accumulation of one or more amino acids or metabolites. Despite higher prevalence rates, screening infants for inherited metabolic disorders is not run in many Middle East countries. AIM: This research is part of a larger study of inherited metabolic disorders to characterize and measure the prevalence of aminoacidopathies. SETTINGS AND DESIGN: Cross-sectional study in the population aged 0-17 years old in Isfahan province of Iran, 2007-2015. SUBJECTS AND METHODS: Demographic characteristics, history of disease, development of clinical condition and socioeconomic status were obtained from interviews as well as patient records of pediatric tertiary referral hospitals and metabolic disorders centers. STATISTICAL ANALYSIS USED: SPSS qualitative and quantitative analysis. RESULTS: The incidence rate of aminoacidopathies was derived to be 9/100,000 live births. The frequency of consanguineous marriages in this group of the patients was 89.2. Of the patients with aminoacidopathies, 76.6 required hospitalization with tyrosinemia having the highest rate overall (>10 times). The most prevalent symptoms in this group of patients were developmental disorders and convulsions while half presented with growth disorders during follow-up. Of the 35.5 patients, who died at various ages, one-third was in the maple syrup urine disease subgroup. CONCLUSION: Although metabolic disorders are identified as rare diseases, they are more prevalent in the studied population of Isfahan.