Although errors of metabolism are more common in infancy and childhood. Since these disorders are related to inherited enzyme deficiencies with resulting effects on metabolicbiochemical pathways, the term metabolic epilepsy can be used to include these conditions. Predicting metabolic biomarkers of human inborn errors of. Pdf biomarkers, metabonomics, and drug development. It is proposed that extending the metabonomic biomarkers used in pediatric hospitals, as advanced clinical chemistry for preclinical and clinical drug development. Inborn errors of metabolism iem are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patients with iem. Although inborn errors of amino acid metabolism iem are treatable disorders, longterm cognitive and behavioral problems are almost constant in. Biomarkers in inborn errors of metabolism sciencedirect. Clinical aspects and laboratory determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism. The identification of new biomarkers is of major importance to biomedical research and is usually performed through data mining of metabolomic data.
Early diagnosis of inborn errors of metabolism is commonly performed through bio. Discovery of biomarker panels for neural dysfunction in. Biomarkers in inborn errors of metabolism 1st edition. An attempt has been made to relate the clinical pathology associated with inborn errors of metabolism with those of druginduced pathology. Pdf predicting metabolic biomarkers of human inborn. Early diagnosis of inborn errors of metabolism is commonly performed through biofluid metabolomics, which detects specific metabolic biomarkers whose concentration is altered due to genomic mutations. Biomarkers in inborn errors of metabolism by uttam garg. Assessment of methylcitrate and methylcitrate to citrate.
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