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



Pourfarzam M¹ ; Barati B² Show Affiliations
Source: Journal of Isfahan Medical School Published:2013

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.