Affiliations: Mitochondrial Research Group, Institute for Aging and
Health, Newcastle University, Newcastle upon Tyne, UK | Institute of Human Genetics, Newcastle University,
Newcastle upon Tyne, UK | Departments of Pediatrics and Neurology, Wayne State
University, Detroit, MI, USA
Note: [] Correspondence: Dr. Rita Horvath, Mitochondrial Research
Group, Institute for Aging and Health, Newcastle University, Framlington Place,
NE2 4HH Newcastle upon Tyne, UK. Tel.: +44 191 222 5982; Fax: +44 191 282 4373;
E-mail: [email protected]
Abstract: The central nervous system is particularly vulnerable to certain
metabolic abnormalities that may result in energy failure and subsequent
neuronal cell death with clinical presentation as strokelike episodes. The
mitochondrion and its electron transport chain machinery provide the main
source of ATP for neurons and the most frequent causes of metabolic stroke are
associated with the disorders of mitochondria. Mitochondrial diseases are a
heterogeneous group of conditions affecting different organs of the body with
variable severity. Both inborn errors (e.g. organic acidurias) and
mitochondrial cytopathies can lead to stroke by vascular or cytotoxic
mechanisms, thereby making a differential diagnosis complicated when using
standard clinical investigations or neuroimaging. This article will provide an
overview of various metabolic strokes in childhood with a special emphasis on
the most frequent mitochondrial diseases.
