Biomarkers in Inborn Errors of Metabolism. Clinical Aspects and Laboratory Determination

Description

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. Content: Front-matter,Copyright,Dedication,List of Contributors,Biographies,PrefaceEntitled to full textChapter 1 - Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism, Pages 1-24 Chapter 2 - Amino acids disorders, Pages 25-64 Chapter 3 - Organic acid disorders, Pages 65-85 Chapter 4 - Disorders of mitochondrial fatty acid β-oxidation, Pages 87-101 Chapter 5 - Urea cycle and other disorders of hyperammonemia, Pages 103-123 Chapter 6 - Newborn screening, Pages 125-153 Chapter 7 - Carbohydrate disorders, Pages 155-166 Chapter 8 - Mitochondrial disorders, Pages 167-190 Chapter 9 - Lysosomal storage disorders: Mucopolysaccharidoses, Pages 191-209 Chapter 10 - Lysosomal storage disorders: Sphingolipidoses, Pages 211-233 Chapter 11 - Peroxisomal disorders: Clinical and biochemical laboratory aspects, Pages 235-282 Chapter 12 - Disorders of purine and pyrimidine metabolism, Pages 283-299 Chapter 13 - Biomarkers for the study of catecholamine and serotonin genetic diseases, Pages 301-329 Chapter 14 - Cerebral creatine deficiency syndromes, Pages 331-341 Chapter 15 - Congenital disorders of glycosylation, Pages 343-360 Chapter 16 - Disorders of vitamins and cofactors, Pages 361-397 Chapter 17 - Disorders of trace metals, Pages 399-426 Index, Pages 427-449