Inborn errors of metabolism (IEM) comprise a large group of both clinically and etiologically heterogeneous disorders involving in human metabolism. There are more than 1000 different IEM disorders ranging from organic acidemias, amino acid metabolism, urea cycle defects, fatty acid oxidation, mitochondrial disorders, carbohydrate metabolism disorders, peroxisomal disorders, purines and pyrimidines metabolism, transport and mineral disorders, mucopolysaccharidoses, mucolipidoses, cholesterol and neural lipid metabolism, lipid storage disorders, lysosomal disorders, and miscellaneous.
IEM can present at any age from fetus to elderly. Clinical presentations of IEM are protean and often non-specific rendering clinical diagnostic difficulties. So far, there is no single "universal" screening test available for all IEM. In order to achieve an accurate and timely diagnosis, a right test should be carefully chosen on a case-to-case basis.
IEM are individually rare but collectively common with an overall incidence of at least 1 in 1400. The local incidence of amino acidemias, urea cycle defects, fatty acid oxidation disorders and organic acidemias is about 1 in 4000.
However, for detection of these four IEM groups, the diagnostic values of spot urinary tests (Ferric Chloride test, Dinitrophenylhydrazine test, Berry test, Nitroprusside-cyanide test and Nitrosonaphthol test) are limited. While performing plasma amino acids, plasma acylcarnitines and urinary organic acids analyses are very laborious and time consuming, the wide-spread uses are often restricted.
In view of the above disadvantages and limitations, we introduce you a better service of dried blood spot broad spectrum metabolic test by tandem mass spectrometry, which has been extensively studied internationally for its commendable diagnostic performance. This test serves as the first-line broad spectrum metabolic test for some disorders in amino acids, urea cycle, fatty acid oxidation and organic acids metabolism.
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