Biochemical aspects of metabolic disorders / Muhammad Sajid Hamid Akash and Kanwal Rehman.

Format:

Book

Author/Creator:

Akash, Muhammad Sajid Hamid, author.

Rehman, Kanwal, author.

Series:

Biochemical Aspects of Metabolic Disorders Volume 2 Series

Language:

English

Subjects (All):

Metabolism--Disorders.

Metabolism.

Physical Description:

1 online resource (1597 pages)

Edition:

First edition.

Place of Publication:

San Diego, CA : Academic Press, [2025]

Summary:

Biochemical Aspects of Metabolic Disorders offers a comprehensive exploration of the intricate biochemical mechanisms and/or pathways underlying a wide array of metabolic disorders.

Contents:

9780443363139v1

Front Cover

Biochemical Aspects of Metabolic Disorders

Copyright

Dedication

Contents

About the authors

Foreword by Shuqing Chen

Foreword by Jamshed Iqbal

Preface

1 - Principles of metabolic disorders

1. Introduction

2. Metabolic disorders and epigenetics

3. Historical perspectives of metabolic disorders

4. Classification of metabolic disorders

4.1 Inherited versus acquired metabolic disorders

4.2 Pathophysiological classification of inherited disorders

4.2.1 Metabolic disorders causing intoxication

4.2.2 Metabolic disorders affecting energy metabolism

4.2.3 Metabolic disorders involving complex molecule metabolism

4.3 Environmental triggers of metabolic disorders

5. Impact of metabolic disorders on human health

6. Complications of metabolic disorders

6.1 Cardiovascular complications

6.1.1 Mechanisms contributing to stroke in metabolic disorders

6.2 Neurological complications

6.2.1 Key factors contributing to diabetic neuropathy

6.3 Renal complications

6.4 Retinopathy

6.5 Hepatic complications

6.6 Musculoskeletal complications

6.6.1 Osteoarthritis

6.6.2 Osteoporosis

6.7 Cognitive impairment

6.8 Complications in pregnancy

6.9 Endocrine complications

6.9.1 Polycystic ovary syndrome

6.9.2 Hypoglycemia

6.10 Gastrointestinal complications

6.11 Immunological complications

6.12 Psychological complications

7. Metabolic disorders of pancreatic dysfunction

7.1 Pancreatic endocrine disorders

7.1.1 Diabetes mellitus

7.2 Pancreatic exocrine disorders

7.2.1 Pancreatitis

7.3 Pancreatic insufficiency

8. Metabolic disorders of kidney dysfunction

8.1 Physiological functions of the kidneys

8.2 MDs associated with kidney dysfunction.

8.2.1 Chronic kidney disease

8.2.2 Acute kidney injury

8.2.3 Renal osteodystrophy

8.2.4 Renal glycosuria

8.2.5 Fanconi syndrome

8.3 Therapeutic approaches for MDs of kidney dysfunction

9. Biochemical concepts in metabolic disorders

9.1 Metabolic pathways

9.2 Anabolism and catabolism

9.3 Divergent and convergent pathways

10. Disorders in carbohydrate metabolism

11. Protein metabolism disorders

11.1 Amino acidopathies

11.2 Maple syrup urine disease

11.3 Tyrosinemia

11.4 Homocystinuria

12. Organic acids metabolism disorders

13. Metabolic diseases associated with urea cycle

13.1 Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome

13.2 Disorders associated with urea cycle malfunction

14. Metabolic disorders of lipid metabolism

15. Disorders in the hormone metabolism

16. Vitamin metabolism disorders

16.1 Understanding the vitamin metabolism disorders

16.2 Examples of vitamin metabolism disorders

16.3 Management and treatment

17. Metabolic disorders of mitochondrial dysfunction

18. Enzyme regulation in metabolic disorders

18.1 Importance of enzymes in metabolism

18.2 Enzyme regulation mechanisms

18.3 Enzyme deficiencies in metabolic disorders

18.4 Therapeutic implications

19. Conclusion

20. Short essay questions

21. Multiple choice questions

References

Further reading

2 - Genetic basis of inherited metabolic disorders

2. Basic concepts of genetics and metabolism

3. Biochemical basis of metabolic pathways

3.1 Inheritance patterns

4. Fundamentals of genetics and inheritance

4.1 Basic genetic principles

4.2 Genetic mutations and IMDs

4.3 Genetic testing

4.4 Genetic counseling

5. Genetic mutations and their impact

6. Classification of IMDs

6.1 Genetic disorders of lipid metabolism.

6.1.1 Familial hypercholesterolemia

6.1.2 Familial hypobetalipoproteinemia

6.2 Genetic disorders of carbohydrate metabolism

6.2.1 Glycogen storage diseases

6.2.2 Galactosemia

6.3 Genetic disorders of amino acid metabolism

6.3.1 Phenylketonuria

6.3.2 Maple syrup urine disease

6.4 Genetic disorders of organic acid metabolism

6.4.1 Methylmalonic acidemia

6.4.2 Propionic acidemia

6.5 Genetic disorders of purine and pyrimidine metabolism

6.5.1 Lesch-Nyhan Syndrome

6.5.2 Orotic aciduria

6.6 Genetic disorders of lysosomal storage

6.6.1 Niemann-Pick disease

6.6.2 Gaucher disease

6.7 Genetic disorders of peroxisomal function

6.7.1 Zellweger spectrum disorders

6.7.2 X-linked adrenoleukodystrophy

7. Molecular basis of genetic disorders

7.1 Biochemical and molecular mechanisms

7.2 Disruption of metabolic pathways

7.3 Mutations in metabolic enzyme genes

7.4 Structural and functional implications

7.5 Genotype-phenotype correlations

8. Diagnostic approaches and tools for diagnosis of IMDs

8.1 Genetic testing and screening

8.2 Biochemical assays

8.3 Imaging techniques

8.4 Challenges and advancements in early diagnosis

8.4.1 Challenges in early diagnosis

8.4.2 Advancements in early diagnosis

8.5 Importance of newborn screening programs

8.5.1 Early identification and intervention

8.5.2 Screening methods

8.5.3 Clinical advancements

9. Treatment strategies and therapeutic advances

9.1 Gene therapy

9.2 Enzyme replacement therapy

9.3 Dietary management

9.4 Challenges and emerging therapeutic approaches

10. Ethical and social implications

10.1 Ethical dilemmas

10.2 Social impacts

10.3 Access to healthcare and support services

11. Biochemical perspectives

11.1 Advances in genetic research

11.2 Emerging therapies and technologies.

11.3 Personalized medicine in metabolic disorders

11.4 Ethical considerations in genetic research

12. Conclusion

13. Short essay questions

14. Multiple choice questions (MCQs)

3 - Diagnostic approaches for detection of biomarkers in metabolic disorders

2. Significance of biomarkers in diseases

3. Role of biomarkers in COVID-19

4. Role of biomarkers in cancer

5. Biomarkers of heart failure

5.1 Role of biomarkers in heart failure

5.2 Types of biomarkers in heart failure

5.3 Limitations and considerations

6. Biomarkers of cardiovascular diseases

6.1 Diagnostic biomarkers

6.2 Prognostic biomarkers

6.3 Risk assessment biomarkers

6.4 Biomarkers of endothelial dysfunction

6.5 Biomarkers of myocardial injury and stress

6.6 Biomarkers for specific cardiovascular conditions

6.7 Applications of cardiovascular biomarkers

6.8 Limitations and considerations

7. Biomarkers of neurological disorders

7.1 Types of biomarkers in neurological disorders

7.1.1 Protein biomarkers

7.1.2 Metabolite biomarkers

7.2 Applications of neurological biomarkers

7.3 Limitations and considerations

8. Biomarkers of lung diseases

8.1 Key biomarkers for lung diseases

8.2 Applications of lung disease biomarkers

8.3 Limitations

9. Biomarkers of kidney diseases

9.1 Key biomarkers for kidney diseases

9.2 Applications of kidney disease biomarkers

9.3 Limitations

10. Biomarkers of liver diseases

10.1 Key biomarkers for liver diseases

10.2 Advances in biomarker discovery

10.3 Applications

11. Biomarkers of carbohydrate metabolism disorders

11.1 Key biomarkers for carbohydrate metabolism disorders

11.2 Applications

12. Biomarkers of lipid metabolism disorders

12.1 Key biomarkers for lipid metabolism disorders

12.2 Applications.

13. Biomarkers of protein metabolism disorders

13.1 Key biomarkers for protein metabolism disorders

13.2 Applications and considerations

14. Biomarkers of vitamins metabolism disorders

14.1 Key biomarkers for vitamin metabolism disorders

14.2 Applications

15. Biomarkers of hormone metabolism disorders

15.1 Key biomarkers for hormone metabolism disorders

15.2 Applications

16. Biomarkers of fatty acids metabolism disorders

16.1 Key biomarkers for fatty acids metabolism disorders

16.2 Applications and considerations

17. Biomarkers of organic acids metabolism disorders

17.1 Key biomarkers for organic acids metabolism disorders

17.2 Applications and considerations

18. Types of biomarkers

18.1 Biochemical biomarkers

18.2 Genetic biomarkers

18.3 Proteomic biomarkers

19. Diagnostic approaches for biomarker detection

19.1 Biochemical assays

19.1.1 Types of biochemical assays

19.2 Molecular techniques

19.3 Imaging techniques

19.4 Emerging technologies

19.5 Integrated approaches

19.6 Metabolic profiling through serum biomarkers

19.7 Serum biomarker for diabetes mellitus

19.7.1 Key biomarkers in diabetes diagnosis

19.7.2 Insulin and its role

19.7.3 Insulin levels and metabolic correlations

19.7.4 Ferritin as a biomarker

19.8 Serum biomarker for dyslipidemia

19.8.1 Apolipoprotein A1

19.8.2 Apolipoprotein B

19.8.3 Lipoprotein (a)

19.8.4 Free fatty acids

19.9 Serum biomarker for inflammation

19.9.1 C-reactive protein

19.9.2 Apolipoproteins

19.9.3 Markers of insulin resistance

19.10 Serum biomarker for oxidative stress and lipid peroxidation

19.11 Genetic testing in metabolic disorders for disease susceptibility

19.11.1 Genetic and epigenetic markers

19.11.2 Advances in genetic sequencing technologies.

20. Proteomic analysis in metabolic disorders for disease susceptibility.

Notes:

Includes bibliographical references and index.

Description based on publisher supplied metadata and other sources.

Description based on print version record.

ISBN:

0-443-36313-7

OCLC:

1520002193