TY - CHAP M1 - Book, Section TI - Oxidative Phosphorylation Diseases A1 - Rahman, Shamima A1 - Cohen, Bruce H. A1 - Raha, Sandeep A1 - Tarnopolsky, Mark A. A2 - Sarafoglou, Kyriakie A2 - Hoffmann, Georg F. A2 - Roth, Karl S. PY - 2017 T2 - Pediatric Endocrinology and Inborn Errors of Metabolism, 2e AB - This chapter provides a general overview of mitochondrial disorders presenting in the pediatric age group. Although there are a variety of disorders in which mitochondrial dysfunction is a secondary phenomenon (eg, Rett syndrome, Friedreich ataxia), we focus predominately on the disorders that result from germline (although acquired mutations can cause disease as well) mutations to mitochondrial DNA (mtDNA), those that alter mtDNA content and quality (depletion and deletions, respectively), and those that (directly or indirectly) alter the composition and assembly of the oxidative phosphorylation (OXPHOS) complexes. Although the pyruvate dehydrogenase (PDH) complex disorders and the citric acid cycle disorders are often considered within the mitochondrial disease framework, these are covered separately in Chapter 8. Given the complexities of the OXPHOS system, the uniqueness of the mitochondrial genome and mitochondrial transcription, a background on the normal physiology and general principles of mtDNA replication and general mitochondrial biology is essential to understand the phenotypic and biochemical consequences of mitochondrial dysfunction and to rationally plan diagnostic and therapeutic strategies. Although the focus is on pediatric mitochondrial disorders, there is a wide clinical spectrum and a number of the disorders discussed in this chapter can also present in adulthood, particularly the disorders caused by mtDNA point mutations and mtDNA maintenance that result in mtDNA depletion or replication infidelity. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1140315717 ER -