The Necessity of Screening of Individuals with Suspected Inherited Metabolic Disorders for Early Diagnosis and Treatment of Related Diseases

Document Type : Review Article

Authors

1 Associate Professor, Department of Clinical Biochemistry, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan, Iran

2 Student of Pharmacy, School of Pharmacy and Pharmaceutical Sciences AND Student Research Commitee, Isfahan University of Medical Sciences, Isfahan, Iran

Abstract

Organic acidurias (or organic acidemias) are a group of inherited metabolic disorders usually caused by loss or lack of the activity of one enzyme in the catabolic pathway of amino acids, fatty acids, carbohydrates, cholesterol, biogenic amines, nucleic acids, and steroids. Accurate and early diagnosis and follow-up of these disorders are very important in prevention of permanent damage of the nervous system, mental retardation, and death. Pathological changes in normal catabolism of these compounds are usually reflected in patient's urinary organic acid profile. These changes can be identified by analysis of urinary organic acids using gas chromatography-mass spectrometry (GC-MS). Since each disease usually has a unique profile, the disorders can be identified by this method. The analysis of urinary organic acids is not currently performed in Iran and samples are sent abroad for such evaluations. However, timely diagnosis and follow-up of these disorders requires accurate determination of normal ranges and profile of urinary organic acids in healthy populations. Genetic and environmental factors and dietary habits can affect the concentration of urinary organic acids. Therefore, data about each population has to be collected separately. The absence of such data in Iran necessitates assessments in the country. Keywords: Organic aciduria, Inherited metabolic disorders, Screening, Gas chromatography-mass spectrometry
Journal of Isfahan Medical School
Volume 30, Issue 221 - Serial Number 221
November and December 2013
Pages 2493-2505

Files

History

  • Receive Date: 19 November 2012
  • Revise Date:
  • Accept Date: 06 April 2022

Share

How to cite

Statistics