Journal of Basic Research in Medical Sciences
J Basic Res Med Sci
Volume 13, Issue 3 (6-2026)
jbrms 2026, 13(3): 30-37 |
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Katebi L, Ahadi A, Amani F. Investigation of the Frequency of Congenital Metabolic Disorders in Children Referred to Bu-Ali Hospital in Ardabil During the Years 2016 to 2023. jbrms 2026; 13 (3) :30-37
URL: http://jbrms.medilam.ac.ir/article-1-1011-en.html
URL: http://jbrms.medilam.ac.ir/article-1-1011-en.html
Department of pediatrics, school of medicine, Ardabil University of medical sciences, aradabil, Iran , ahadiadel42@gmail.com
Abstract: (245 Views)
Introduction: Hereditary metabolic diseases are rare disorders individually, but in countries where family marriages are more common, such as Iran, they have a high prevalence, and in Ardabil Province, due to the fact that family and tribal marriages are more common, the prevalence of these disorders is higher. Since early diagnosis and follow-up treatment of these diseases are important to prevent irreparable damage, and on the other hand, these diseases involve different organs and have different clinical features. If the symptoms are detected, the complications, death, and disability of the disease will be prevented. Therefore, this study was decided to investigate the prevalence of congenital metabolic diseases in Ardabil province during the years 2016 to 2023.
Materials & Methods: In this cross-sectional descriptive study, a total of 195 children (114 boys and 81 girls) aged 1-15 years at Bu-Ali Hospital of Ardabil city were registered with congenital metabolic diseases based on specific biochemical, genetic, and clinical criteria different from those for metabolic syndrome. The data were collected in a checklist and analyzed in SPSS V.21 using descriptive statistical methods in the form of tables, graphs, frequencies, and percentages.
Results: The overall prevalence of congenital metabolic disorders among the studied children was 3.3 per thousand people. The most common types of congenital metabolic disorders in the studied children were phenylketonuria with 62 cases (31.8%) and urea cycle disorders with 26 cases (13.3%).
Conclusion: In this study, more than 20 different types of hereditary metabolic disorders were identified among children, and more than 81% of the children's parents were related
Materials & Methods: In this cross-sectional descriptive study, a total of 195 children (114 boys and 81 girls) aged 1-15 years at Bu-Ali Hospital of Ardabil city were registered with congenital metabolic diseases based on specific biochemical, genetic, and clinical criteria different from those for metabolic syndrome. The data were collected in a checklist and analyzed in SPSS V.21 using descriptive statistical methods in the form of tables, graphs, frequencies, and percentages.
Results: The overall prevalence of congenital metabolic disorders among the studied children was 3.3 per thousand people. The most common types of congenital metabolic disorders in the studied children were phenylketonuria with 62 cases (31.8%) and urea cycle disorders with 26 cases (13.3%).
Conclusion: In this study, more than 20 different types of hereditary metabolic disorders were identified among children, and more than 81% of the children's parents were related
Type of Study: Research |
Subject:
Pediatrics
Received: 2025/07/20 | Accepted: 2025/10/14 | Published: 2026/06/16
Received: 2025/07/20 | Accepted: 2025/10/14 | Published: 2026/06/16
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