Clinical Trial: Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Study Status: Completed
Recruit Status: RECRUITING
Condition: Propionic/Methylmalonic Acidemias
Study Type: OBSERVATIONAL
Official Title: Introduction of Tandem Mass Spectrometry (MS/MS) Technology in the Program of Selective Screening of Hereditary Metabolic Diseases in Kazakhstan
Brief Summary:
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.IEM most commonly manifest in early infancy and childhood.Despite the fact that most IEM are rare in the population, they occupy one of the first places in the structure of childhood pathology, early infant mortality and disability.IEM often remains undiagnosed, while timely diagnosis and timely treatment started can…
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