The aim of this study was to assess the heterogeneous clinical presentations of children with mitochondrial disorders evaluated at a metabolic neurogenetic clinic. The charts of 36 children with highly suspected mitochondrial disorders were reviewed. Thirty one children were diagnosed as having a mitochondrial disorder, based on a suggestive clinical presentation and at least one of the accepte...

Mitochondrial disorders are genetic defects of oxidative phosphorylation which can aVect different organs or tissues. 2 These disorders have long been regarded as neuromuscular diseases only, but it now appears that they can aVect a number of other organs including the heart, liver, pancreas, haematopoietic system, and the kidneys. Renal symptoms appear to be more common in children than in adu...

Mitochondrial disorders are a diverse group of debilitating conditions resulting from nuclear and mitochondrial DNA mutations that affect multiple organs, often including the central and peripheral nervous system. Despite major advances in our understanding of the molecular mechanisms, effective treatments have not been forthcoming. For over five decades patients have been treated with differen...

A.K. Reeve et al. (eds.), Mitochondrial Dysfunction in Neurodegenerative Disorders, DOI 10.1007/978-0-85729-701-3_2, © Springer-Verlag London Limited 2012 Abstract Mitochondria are critically responsible for the generation of energy in the form of ATP through the electron transport chain (ETC). The central nervous system (CNS) performs highly energy-intensive tasks and is therefore particularly...

Mitochondria, specialized compartments present in every cell of the body (except red blood cells), produce 90% of the energy needed to support growth and sustain life. Mitochondrial disorders result from a decrease in the ability of the mitochondria to make energy in the form of adenosine 5'triphosphate (ATP). There are over 40 known types of mitochondrial disorders. These disorders often affec...

about the frequency of central and peripheral auditory system affection in 73 patients with a mitochondrial disorder (MID) due to mitochondrial DNA (mtDNA) point mutations or a single mtDNA deletion. We had the following comments and concerns. How can the authors be sure that impaired hearing (IH) was due to mtDNA‑mutations and not due to one of the frequent other genetic defects associated wit...

Mitochondrial tRNA gene mutations, including heteroplasmic deletions that eliminate one or more tRNAs, as well as point mutations that may be either hetero- or homoplasmic, are associated with a wide spectrum of human diseases. These range from rare syndromic disorders to cases of commoner conditions such as sensorineural deafness or cardiomyopathy. The disease spectrum of mutations in a given ...

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The mitochondria play a complex multi-factorial role in the cell. Along with their primary role in energy (ATP) production, mitochondria generate reactive oxygen species (ROS) that directly or indirectly affect several cellular functions. In this article, I review the molecular, structural and functional mitochondrial abnormalities reported in chagasic cardiomyopathy. I highlight current inform...

Mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE), is an autosomal recessive disease, is one of the mitochondrial disorders, and is a multisystem disease clinically defined by progressive ophthalmoplegia, peripheral neuropathy, leukoencephalopathy, mitochondrial abnormalities and severe gastrointestinal involvement. Mitochondrial disorders have clinical manifestations reflecting th...