title: A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children.
abstract: Mitochondrial disorders are a heterogeneous group of disorders affecting energy production of the body. Different consensus diagnostic criteria for mitochondrial disorders in childhood are available - Wolfson, Nijmegen and modified Walker criteria. Due to the extreme complexity of mitochondrial disorders in children, we decided to develop a diagnostic algorithm, applicable in clinical practice in Estonia, in order to identify patients with mitochondrial disorders among pediatric neonatology and neurology patients. Additionally, it was aimed to evaluate the live-birth prevalence of mitochondrial disorders in childhood. During the study period (2003-2009), a total of 22 children were referred to a muscle biopsy in suspicion of mitochondrial disorder based on the preliminary biochemical, metabolic and instrumental investigations. Enzymatic and/or molecular analysis confirmed mitochondrial disease in 5 of them - an SCO2 gene (synthesis of cytochrome c oxidase, subunit 2) defect, 2 cases of pyruvate dehydrogenase complex deficiency and 2 cases of combined complex I and IV deficiency. The live-birth prevalence for mitochondrial defects observed in our cohort was 1/20,764 live births. Our epidemiological data correlate well with previously published epidemiology data on mitochondrial diseases in childhood from Sweden and Australia, but are lower than in Finland.
authors.affiliation: Department of Genetics, United Laboratories, Tartu, Estonia ; The Centre of Excellence for Translational Medicine, University of Tartu, Tartu, Estonia.
authors.forename: K
authors.initials: K
authors.lastname: Joost
authors.forename: R J
authors.initials: RJ
authors.lastname: Rodenburg
authors.forename: A
authors.initials: A
authors.lastname: Piirsoo
authors.forename: L
authors.initials: L
authors.lastname: van den Heuvel
authors.forename: R
authors.initials: R
authors.lastname: Zordania
authors.forename: H
authors.initials: H
authors.lastname: Põder
authors.forename: I
authors.initials: I
authors.lastname: Talvik
authors.forename: K
authors.initials: K
authors.lastname: Kilk
authors.forename: U
authors.initials: U
authors.lastname: Soomets
authors.forename: K
authors.initials: K
authors.lastname: Ounap