title: Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007-2015.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  This research is part of a larger study of inherited metabolic disorders to characterize and measure the prevalence of aminoacidopathies.
  
  
  METHODS
  Cross-sectional study in the population aged 0-17 years old in Isfahan province of Iran, 2007-2015.
  
  
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Although metabolic disorders are identified as rare diseases, they are more prevalent in the studied population of Isfahan.
authors.affiliation: Department of Pediatric Endocrinology and Metabolism, Ilam University of Medical Sciences, Ilam, Iran; Endocrine and Metabolism Research Center, University of Medical Sciences, Isfahan, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Najafi
authors.affiliation: Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Mahin
authors.initials: M
authors.lastname: Hashemipour
authors.affiliation: Department of Pediatric Neurology, University of Medical Sciences, Isfahan, Iran.
authors.forename: Omid
authors.initials: O
authors.lastname: Yaghini
authors.affiliation: Internal and Surgical Nursing, Ilam University of Medical Sciences, Ilam, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Najafi
authors.affiliation: Medical Student, University of New South Wales, Sydney NSW 2052, Australia.
authors.forename: Amirsalar
authors.initials: A
authors.lastname: Rashidianfar
keywords: Aminoacidopathy; consanguinity; early detection