Abstract
The analysis of urinary organic acids is useful for patients suspected to have inborn errors of metabolism known as organic acidurias. These diseases cause an accumulation of organic acids in body fluids and their abnormal excretion in urines. By means of chemometrics tools, such as principal component analysis and multiple linear regression, it was concluded that the conditions used in our laboratory are really the most suitable to achieve high yields of analytes.
Highlights
Organic acids and acylglycines determination in urine samples is an extremely important tool for the diagnosis of inborn errors of metabolism (IEM) characterized by abnormal excretion of these substances and known as organic acidurias [1]
The multifactorial design of experiment (DoE) was planned by comparing our analytical method with (i) procedures used in the most important IEM laboratory worldwide, Mayo Clinic’s (Rochester, MN, USA), described by P
Rinaldo in his “Organic acids” [24], and (ii) those described in American College of Medical
Summary
Organic acids and acylglycines determination in urine samples is an extremely important tool for the diagnosis of inborn errors of metabolism (IEM) characterized by abnormal excretion of these substances and known as organic acidurias [1]. Organic acidurias consist of a very heterogeneous group of disorders, both phenotypically and genetically. They are caused by defects in genes responsible for the coding of enzymes or cofactors involved in crucial metabolic pathways [2]. To date, according to Villani et al [3] more than 65 organic acidurias have been documented Even if these disorders are individually very rare, the cumulative incidence is probably one out of 3000 live births [4]. Some of them can be treated, with promising outcomes For this reason it is really important to diagnose them early, in order to start the treatment before the most severe symptoms take place
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