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Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007–2015
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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5040050/ https://www.ncbi.nlm.nih.gov/pubmed/27730080 http://dx.doi.org/10.4103/2230-8210.190556 |
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author | Najafi, Reza Hashemipour, Mahin Yaghini, Omid Najafi, Fatemeh Rashidianfar, Amirsalar |
author_facet | Najafi, Reza Hashemipour, Mahin Yaghini, Omid Najafi, Fatemeh Rashidianfar, Amirsalar |
author_sort | Najafi, Reza |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5040050 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-50400502016-10-11 Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007–2015 Najafi, Reza Hashemipour, Mahin Yaghini, Omid Najafi, Fatemeh Rashidianfar, Amirsalar Indian J Endocrinol Metab Original Article 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. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC5040050/ /pubmed/27730080 http://dx.doi.org/10.4103/2230-8210.190556 Text en Copyright: © Indian Journal of Endocrinology and Metabolism http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. |
spellingShingle | Original Article Najafi, Reza Hashemipour, Mahin Yaghini, Omid Najafi, Fatemeh Rashidianfar, Amirsalar Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007–2015 |
title | Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007–2015 |
title_full | Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007–2015 |
title_fullStr | Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007–2015 |
title_full_unstemmed | Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007–2015 |
title_short | Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007–2015 |
title_sort | demographic and clinical characteristics of the children with aminoacidopathy in isfahan province, central iran in 2007–2015 |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5040050/ https://www.ncbi.nlm.nih.gov/pubmed/27730080 http://dx.doi.org/10.4103/2230-8210.190556 |
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