title: Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia.
abstract: OBJECTIVE
  Metabolic disorders, which involve many different organs, can be ascribed to enzyme deficiency or dysfunction and manifest with a wide range of clinical symptoms. This study evaluated some of the demographic and clinical findings in pediatric patients affected by organic acidemia.
  
  
  METHODS
  This cross-sectional study was part of a larger study conducted in patients with metabolic disorders during a period of 7 years from 2007 to 2014 in Isfahan Province, Iran. Our study covered a wide range of cases from newborn infants (one-week old) to adolescents (children up to the age of 17 years). This study evaluated patients' demographic information, history of disease, developmental and educational status, clinical and general conditions. Phone and in-person interviews were used to gather information.
  
  
  RESULTS
  Out of 5100 patients screened in this study, 392 patients were affected by one of the different metabolic disorders and 167 individuals were diagnosed as organic acidemia. Propionic acidemia/methyl malonic acidemia (PA/MMA) was the most prevalent form of this metabolic disorder. The frequency of consanguinity was 84.7% in the group of patients. The mortality rate was 18.8% in patients with organic academia.
  
  
  CONCLUSIONS
  Each of the metabolic diseases, as a separate entity, is rare; nevertheless, in aggregate they have a somewhat high overall prevalence. These diseases result in mental and developmental disorders in the absence of quick diagnosis and initiation of treatment. Furthermore, more mutations should be identified in societies affected by consanguinity. Further research should also be conducted to determine worthwhile and more-efficient screening methods as well as long term neurological prognosis.
authors.affiliation: Pediatric Endocrinology Department, Ilam University of Medical Sciences, Ilam, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Najafi
authors.affiliation: Pediatric Endocrinology Department, Endocrine Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Mahin
authors.initials: M
authors.lastname: Hashemipour
authors.affiliation: Pediatric Endocrinology Department, Endocrine Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Neda
authors.initials: N
authors.lastname: Mostofizadeh
authors.affiliation: Pediatric Neurology Department, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Mohammadreza
authors.initials: M
authors.lastname: Ghazavi
authors.affiliation: Pediatric Neurology Department, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Jafar
authors.initials: J
authors.lastname: Nasiri
authors.affiliation: Department of Community Medicine, Child Growth and Development Research Center & Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Armindokht
authors.initials: A
authors.lastname: Shahsanai
authors.affiliation: Pediatric gastroenterology Department, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Famori
authors.affiliation: Internal and surgical nursing, Ilam university of medical sciences, Ilam, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Najafi
authors.affiliation: Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Moafi
keywords: Consanguinity; Developmental delay; Early Detection; Organic academia