title: Mitochondrial disease: beyond etiology unknown.
abstract: Mitochondrial dysfunction is now recognized as a relatively common cause of degenerative disease in children. Mutations in either the mitochondrial or the nuclear genome that cause errors in the synthesis of enzymes essential for energy production and metabolism lead to a wide variety of pediatric problems, including developmental delays, sensorimotor impairment, seizures, diabetes, and organ failure. This article reviews the role of mitochondria in health and illness, discusses the clinical aspects of mitochondrial dysfunction, describes the experiences of three children with mitochondrial disease, and presents nursing strategies for affected families.
authors.affiliation: University of Massachusetts, Lowell, USA. cread@mediaone.net
authors.forename: C Y
authors.initials: CY
authors.lastname: Read
authors.forename: R J
authors.initials: RJ
authors.lastname: Calnan
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007255:Information Services; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000451:nursing* / Q000523:psychology; D009154:Mutation / Q000235:genetics; D010353:Patient Education as Topic; D010371:Pediatric Nursing / Q000379:methods*; D010375:Pedigree; D012944:Social Support