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 screens
- Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers
- Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism
- Offers guidance on how to distinguish acquired causes from inborn errors of metabolism
1. Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism2. Amino acid disorders3. Organic acid disorders4. Disorders of mitchondrial fatty acid ß-oxidation5. Urea cycle and other disorders of hyperammonemia6. Newborn screening7. Carbohydrate disorders8. Mitochondrial disorders9. Lysosomal storage disorders: mucopolysaccharidoses10. Lysosomal storage disorders: sphingolipidoses11. Peroxisomal disorders: clinical and biochemical laboratory aspects12. Disorders of purine and pyrimidine metabolism13. Biomarkers for the study of catecholamine and serotonin genetic diseases14. Cerebral creatine deficiency syndromes15. Congenital disorders of glycosylation16. Disorders of vitamins and cofactors17. Disorders of trace metals
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Residents, fellows and professionals in molecular pathology, lab medicine, clinical chemistry, and medical genetics; endocrinologists and pediatricians