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

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.

Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screensCategorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkersCovers confounding factors that can alter biomarkers in the absence of inborn errors of metabolismOffers guidance on how to distinguish acquired causes from inborn errors of metabolism

1. Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism 2. Amino acid disorders 3. Organic acid disorders 4. Disorders of mitchondrial fatty acid ß-oxidation 5. Urea cycle and other disorders of hyperammonemia 6. Newborn screening 7. Carbohydrate disorders 8. Mitochondrial disorders 9. Lysosomal storage disorders: mucopolysaccharidoses 10. Lysosomal storage disorders: sphingolipidoses 11. Peroxisomal disorders: clinical and biochemical laboratory aspects 12. Disorders of purine and pyrimidine metabolism 13. Biomarkers for the study of catecholamine and serotonin genetic diseases 14. Cerebral creatine deficiency syndromes 15. Congenital disorders of glycosylation 16. Disorders of vitamins and cofactors 17. Disorders of trace metals