Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007-2015

Tue Jun 18 13:02:53 2024

(2016) Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007-2015. Indian journal of endocrinology and metabolism. pp. 679-683. ISSN 2230-8210 (Print) 2230-9500 (Linking)

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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.

Item Type: Article
Hashemipour, M.UNSPECIFIED
Rashidianfar, A.UNSPECIFIED
Keywords: Aminoacidopathy consanguinity early detection
Page Range: pp. 679-683
Journal or Publication Title: Indian journal of endocrinology and metabolism
Journal Index: Pubmed
Volume: 20
Number: 5
Identification Number:
ISSN: 2230-8210 (Print) 2230-9500 (Linking)
Depositing User: مهندس مهدی شریفی

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