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Mitochondrial Disorders

  • Chapter
Molecular Pathology in Clinical Practice

Abstract

Mitochondrial disorders, also known as mitochondrial respiratory chain (RC) disorders, or oxidative phosphorylation (OXPHOS) disorders, are a heterogeneous group of disorders resulting from primary dysfunction of the mitochondrial respiratory chain or ATR synthesis. Mitochondrial disorders may affect a single organ, but many involve multiple organ systems particularly those that are highly dependent on aerobic metabolism (brain, skeletal muscle, heart, kidney, and endocrine system). This chapter describes mitochondrial diseases resulting from OXPHOS deficiency and genes directly and/or indirectly involved in the respiratory chain and ATP synthesis.

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Authors and Affiliations

  1. Genetic Testing for Mitochondrial Disorders, GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA

    Renkui Bai M.D., Ph.D., F.A.C.M.G.

  2. GeneDx, Gaithersburg, MD, USA

    Jaimie D. Higgs M.S., C.G.C.

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  1. Renkui Bai M.D., Ph.D., F.A.C.M.G.
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  2. Jaimie D. Higgs M.S., C.G.C.
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Correspondence to Renkui Bai M.D., Ph.D., F.A.C.M.G. .

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Editors and Affiliations

  1. Pathology and Laboratory Medicine, University of Vermont College of Medicine and University of Vermont Medical Center, Burlington, Vermont, USA

    Debra G.B. Leonard

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Bai, R., Higgs, J.D. (2016). Mitochondrial Disorders. In: Leonard, D. (eds) Molecular Pathology in Clinical Practice. Springer, Cham. https://doi.org/10.1007/978-3-319-19674-9_10

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  • DOI: https://doi.org/10.1007/978-3-319-19674-9_10

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