title: Mitochondrial cytopathies, phenotypic heterogeneity and a high incidence.
abstract: Mitochondrial respiratory chain disorders account for significant and varied presentations in paediatric practice. The true prevalence of these disorders in the paediatric population is still not well documented with predicted geographic variation. We report a retrospective analysis over a seven year period of cases presenting to a tertiary care centre and associated clinical features. The overall prevalence of mitochondrial disorders in our population is higher than expected (1/9,000 births), explained in part by multiple presentations in a consanguineous subgroup of the population (Irish travellers).
authors.affiliation: National Centre for Inherited Metabolic Disorders, The Children's University Hospital, Temple St, Dublin, Ireland. eileen.treacy@tsch.ie
authors.forename: E
authors.initials: E
authors.lastname: Ryan
authors.forename: M D
authors.initials: MD
authors.lastname: King
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: P D
authors.initials: PD
authors.lastname: Mayne
authors.forename: G K
authors.initials: GK
authors.lastname: Brown
authors.forename: A A
authors.initials: AA
authors.lastname: Monavari
authors.forename: R
authors.initials: R
authors.lastname: Walsh
authors.forename: E P
authors.initials: EP
authors.lastname: Treacy
mesh_terms: D006801:Humans; D015994:Incidence; D007494:Ireland / Q000453:epidemiology; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D010641:Phenotype