Название: Biomarkers in Inborn Errors of Metabolism Автор: Garg Uttam, Smith Laurie D. (eds.) Издательство: Elsevier Год: 2017 Формат: pdf Страниц: 449 Размер: 15 mb Язык: английский
Biomarkers of Inborn Errors in Metabolism: 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. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders.
With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation.
Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism Amino acid disorders Organic acid disorders Disorders of mitchondrial fatty acid ?-oxidation Urea cycle and other disorders of hyperammonemia Newborn screening Carbohydrate disorders Mitochondrial disorders Lysosomal storage disorders: mucopolysaccharidoses Lysosomal storage disorders: sphingolipidoses Peroxisomal disorders: clinical and biochemical laboratory aspects Disorders of purine and pyrimidine metabolism Biomarkers for the study of catecholamine and serotonin genetic diseases Cerebral creatine deficiency syndromes Congenital disorders of glycosylation Disorders of vitamins and cofactors Disorders of trace metals
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Biomarkers in Inborn Errors of Metabolism 
