Clinical Mitochondrial Medicine

Mitochondrial disorders are a highly diverse group of conditions that can affect almost every major system in the human body, often mimicking common disorders. This clinical variety often results in prolonged and often dangerous, diagnostic delays. This textbook provides a practical framework, to enable rapid identification, investigation, and treatment of mitochondrial disorders across the spectrum of clinical practice. Clinically relevant and comprehensive, this textbook employs a system- and case-based approach for practitioners of all levels. It focuses on major phenotypic features, syndromes and management relevant for clinical practice, within a broad overview of the field. This interactive book supports readers with knowledge distilled from over 20 internationally recognized, mitochondrial experts.

    An accessible primer for practicing physicians, allowing a concise and pragmatic approach to the diagnosis and clinical management of a range of mitochondrial disorders
    Offers a unique system- and case-based approach, putting theory into everyday practice, and is authored by a range of international experts in the field of mitochondrial medicine
    Presents a framework underpinning the clinical to approach mitochondrial disorders, enabling readers with particular interest to focus on organ-specific phenotypes, whilst also generating a broad overview of the field

Contents

Part I. Introduction to Mitochondrial Medicine:
1. Mitochondria in health and disease Carlo Viscomi and Massimo Zeviani
2. Clinical approach in children Shamima Rahman
3. Clinical approach in adults Michael J. Keogh, Hannah E. Steele and Patrick F. Chinnery
4. Laboratory investigation of mitochondrial diseases Robert W. Taylor and David R. Thorburn
5. Clinical genetics of mitochondrial diseases Marni J. Falk and Colleen Clarke Muraresku
6. Clinical management of mitochondrial diseases Rita Horvath
Part II. Systems Involved in Mitochondrial Diseases:
7. Neurology – the central nervous system Michael J. Keogh, Hannah E. Steele and Patrick F. Chinnery
8. Neurology – the peripheral nervous system – muscle and nerve Robert D. S. Pitceathly, Michael G. Hanna and Mary M. Reilly
9. Ophthalmology Patrick Yu-Wai-Man, Chiara La Morgia and Valerio Carelli
10. Audiology Peter Kullar
11. Cardiovascular medicine Michael J. Keogh, Hannah E. Steele and Patrick F. Chinnery
12. Respiratory medicine and anaesthesiology Michael J. Keogh, Hannah E. Steele and Patrick F. Chinnery
12. Respiratory medicine and anaesthesiology Philip G. Morgan and Margaret M. Sedensky
13. Endocrinology and diabetes Mark Walker, Alison J. Heggie, Andrew M. Schaefer and Grainne S. Gorman
14. Gastroenterology and hepatology Irenaeus F. M. de Coo and Jessie M. Hulst
15. Nephrology Thomas M. F. Connor and Patrick H. Maxwell
16. Psychiatry Laurence A. Bindoff

Patrick F. Chinnery FMedSci, is Professor of Neurology in the Department of Clinical Neurosciences at the University of Cambridge. He has been a mitochondrial physician for over twenty years, identifying many new mitochondrial disorders, defining their clinical and molecular basis, and led the first randomised controlled trial for a mitochondrial disease.

Michael Keogh, Mitochondrial Research Group, Department of Neurology, University of Newcastle upon Tyne
Michael Keogh is a Clinical Research Fellow at the University of Cambridge, and a Specialty Trainee in Neurology in The North East of England.