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Laboratory Diagnosis of Inherited Metabolic Diseases

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  • ISBN: 9780443413797
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Laboratory Diagnosis of Inherited Metabolic Diseases

provides the most up-to-date guidance on laboratory test selection and interpretation, illustrated metabolic pathways, and information on clinical presentation, genetics, pathogenesis, treatment, and prognosis of these diseases.

Biochemical genetic testing is a key laboratory medicine discipline for evaluating, diagnosing, and treating inherited metabolic diseases (IMDs).

These tests are complex and specialized, and use a variety of specimens, including blood, urine, plasma, and cerebrospinal fluid.

The tests evaluate enzyme activity, protein function, and metabolite levels, such as fatty acids, amino acids, and organic acids.

Since the first edition and the expansion of newborn screening, an increasing number of healthcare providers are encountering metabolic disorders, and selecting and interpreting tests can be challenging.

This fully revised edition offers simple and practical approaches to understanding metabolic diseases, assisting in the selection of tests for confirmatory diagnosis and clinical follow-up.

1. Introduction to the Laboratory Diagnosis of Inherited Metabolic Diseases

2. Amino Acid Disorders

3. Organic Acids Disorders

4. The Urea Cycle Disorders and Hyperammonaemias

5. Mitochondrial Fatty acid oxidation defects

6. Disorders of Carbohydrate Metabolism

7. Lysosomal storage diseases

8. Peroxisomal disorders

9. Transport Defects

10. Mitochondrial disorders

11. Disorders of Purine and Pyrimidine Metabolism

12. Creatine Deficiency Disorders

13. Disorders involving specific metals, vitamins and cofactors

14. Neurotransmitter disorders

15. Glycogen storage diseases

16. Gluconeogenesis disorders

17. Disorders of glycosylation

18. Newborn Screening

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