Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain

Pediatric Neurology
M Castro-GagoJ Eirís-Puñal

Abstract

Our knowledge of mitochondrial respiratory chain diseases has increased dramatically in recent years, but relatively little information is available about their prevalence and incidence, either in pediatric or adult patients. This study reports incidence and prevalence estimates, and summarizes the clinical, biochemical, histologic, and genetic characteristics of 51 patients age 0-16 years. The overall annual incidence of all mitochondrial respiratory chain diseases was estimated to be 1.43 cases per 10(5) in the population as a whole, and 2.85 cases per 10(5) in the under-6 population. The overall prevalence of all mitochondrial respiratory chain diseases was estimated as 7.5 cases per 10(5) in the under-19 population, and 8.7 cases per 10(5) in the under-16 population. These incidence and prevalence estimates are higher than in most previous studies of pediatric populations. Estimated prevalences of specific mitochondrial respiratory chain diseases were 2.05 cases per 10(5) for Leigh syndrome, 0.68 per 10(5) for mitochondrial deoxyribonucleic acid (mtDNA) deletions and deletions-duplications, 1.59 per 10(5) for mtDNA depletions, and 0.45 per 10(5) for mtDNA point mutations. Leigh syndrome was the most frequent clinical syndro...Continue Reading

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Citations

Sep 4, 2010·Journal of Developmental and Behavioral Pediatrics : JDBP·Marni J Falk
Sep 17, 2010·Italian Journal of Pediatrics·Dhananjay Y ShrikhandeGurmeet Singh
Apr 13, 2011·Pediatric Neurology·Mihael RogacDavid Neubauer
Apr 22, 2009·Pediatric Neurology·Luísa DiogoCatarina Resende Oliveira
Oct 22, 2008·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Manuel Castro-GagoJesús Eirís-Puñal
May 5, 2009·American Journal of Otolaryngology·Anita JeyakumarSumit Parikh
Jul 12, 2008·Brain & Development·Manuel Castro-GagoJoaquín Arenas-Barbero
Nov 1, 2006·Pediatric Neurology·Manuel Castro-GagoSantiago Rodríguez-Segade
Feb 19, 2010·Acta Paediatrica·M Castro-GagoJ Eirís-Puñal
Sep 27, 2012·Molecular Genetics and Metabolism·Diego MartinelliGuy Miller
May 3, 2011·Journal of Child Neurology·Manuel Castro-GagoJesús Eirís-Puñal
Feb 19, 2010·Developmental Medicine and Child Neurology·Jill Edith KislerRobert McFarland
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Jul 23, 2020·Therapeutic Advances in Endocrinology and Metabolism·Min LiYimin Cui
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