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.
1. Chapter 1. Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism - p. 1 2. Chapter 2. Amino acids disorders - p. 25 3. Chapter 3. Organic acid disorders - p. 65 4. Chapter 4. Disorders of mitochondrial fatty acid β-oxidation - p. 87 5. Chapter 5. Urea cycle and other disorders of hyperammonemia - p. 103 6. Chapter 6. Newborn screening - p. 125 7. Chapter 7. Carbohydrate disorders - p. 155 8. Chapter 8. Mitochondrial disorders - p. 167 9. Chapter 9. Lysosomal storage disorders: Mucopolysaccharidoses - p. 191 10. Chapter 10. Lysosomal storage disorders: Sphingolipidoses - p. 211 11. Chapter 11. Peroxisomal disorders: Clinical and biochemical laboratory aspects - p. 235 12. Chapter 12. Disorders of purine and pyrimidine metabolism - p. 283 13. Chapter 13. Biomarkers for the study of catecholamine and serotonin genetic diseases - p. 301 14. Chapter 14. Cerebral creatine deficiency syndromes - p. 331 15. Chapter 15. Congenital disorders of glycosylation - p. 343 16. Chapter 16. Disorders of vitamins and cofactors - p. 361 17. Chapter 17. Disorders of trace metals - p. 399 18. Index - p. 427
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.
1. Chapter 1. Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism - p. 1 2. Chapter 2. Amino acids disorders - p. 25 3. Chapter 3. Organic acid disorders - p. 65 4. Chapter 4. Disorders of mitochondrial fatty acid β-oxidation - p. 87 5. Chapter 5. Urea cycle and other disorders of hyperammonemia - p. 103 6. Chapter 6. Newborn screening - p. 125 7. Chapter 7. Carbohydrate disorders - p. 155 8. Chapter 8. Mitochondrial disorders - p. 167 9. Chapter 9. Lysosomal storage disorders: Mucopolysaccharidoses - p. 191 10. Chapter 10. Lysosomal storage disorders: Sphingolipidoses - p. 211 11. Chapter 11. Peroxisomal disorders: Clinical and biochemical laboratory aspects - p. 235 12. Chapter 12. Disorders of purine and pyrimidine metabolism - p. 283 13. Chapter 13. Biomarkers for the study of catecholamine and serotonin genetic diseases - p. 301 14. Chapter 14. Cerebral creatine deficiency syndromes - p. 331 15. Chapter 15. Congenital disorders of glycosylation - p. 343 16. Chapter 16. Disorders of vitamins and cofactors - p. 361 17. Chapter 17. Disorders of trace metals - p. 399 18. Index - p. 427
