Mitochondrial diseases, or encephalomyopathies, are an uncommon, heterogeneous group of disorders with variable clinical course and presentation. Many of these patients present for surgery, or undergo anaesthesia in the course of investigation of their illness. Unfortunately, little information exists on their management in anaesthetic texts and the literature. We report on the anaesthetic mana...

1707 M are subcellular organelles that coordinate numerous metabolic reactions, including those of the respiratory complexes that produce the ATP that powers cellular reactions. They have often been depicted as static, with a kidneybean shape, but there is a growing appreciation of their dynamic nature.1,2 Moreover, they are strikingly varied in structure, ranging from small, spherical particle...

The small circle of mitochondrial DNA (mtDNA) present in all human cells has proven to be a veritable Pandora's box of pathogenic mutations and rearrangements. In this review, we summarize the distinctive rules of mitochondrial genetics (maternal inheritance, mitotic segregation, heteroplasmy and threshold effect), stress the relatively high prevalence of mtDNA-related diseases, and consider re...

Mitochondrial respiratory chain disorders are relatively common inborn errors of energy metabolism, with a combined prevalence of one in 5000. These disorders typically affect tissues with high energy requirements, and cerebral involvement occurs frequently in childhood, often manifesting in seizures. Mitochondrial diseases are genetically heterogeneous; to date, mutations have been reported in...

BACKGROUND AND PURPOSE It is well known that some mitochondrial disorders are responsible for ischemic cerebral infarction in young patients. Our purpose was to determine, in this prospective ongoing study, whether ischemic stroke is the only manifestation of a mitochondrial disorder in young patients. METHODS Patients aged </=50 years, admitted to the Stroke Unit from January 1999 to May 200...

It is increasingly common for children with mitochondrial disease to undergo surgery and anesthesia. Although many different anesthetics have been used successfully for these patients, serious, unexpected complications have occurred during and following anesthetic exposure. This has led to the widespread opinion among anesthesiologists that mitochondrial patients are at increased risk from the ...