Author/Authors :
NAJAFI، Reza نويسنده Pediatric Endocrinology Department, Ilam University of Medical Sciences, Ilam, Iran , , Hashemipour، Mahin نويسنده , , Mostofizadeh، Neda نويسنده Department of Pediatrics, Faculty of Medicine, and Child Health Promotion Research Center, IUMS, Isfahan , , GHAZAVI، Mohammadreza نويسنده Pediatric Neurology Department, Isfahan University of Medical Sciences, Isfahan, Iran , , Nasiri، Jafar نويسنده Department of Internal Medicine, Faculty of Medicine, Shaharekord University of Medical Sciences, Shahrekord, Iran , , Shahsanai، Armindokht نويسنده Department of Pediatrics, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, IR Iran , , FAMORI، Fatemeh نويسنده Pediatric gastroenterology Department, Isfahan University of Medical Sciences, Isfahan, Iran , , NAJAFI، Fatemeh نويسنده Internal and surgical nursing, Ilam university of medical sciences, Ilam, Iran , , Moafi، Mohammad نويسنده Department of Laboratory Sciences, Faculty of Para-Veterinary Sciences, Bu-Ali Sina University, Hamedan, Iran ,
Abstract :
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.
Materials & 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.
Conclusion
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 longterm neurological prognosis.
