Document Detail

Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain.
MedLine Citation:
PMID:  16504790     Owner:  NLM     Status:  MEDLINE    
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 syndrome. The estimates of the prevalences of mtDNA deletions, deletions-duplications, and point mutations set forth here are lower than in similar previous studies, whereas the estimate of the prevalence of mtDNA depletions is rather higher. Sixteen of these patients manifested phenotypic syndromes that have not been previously reported in association with mitochondrial respiratory chain diseases.
Manuel Castro-Gago; Manuel O Blanco-Barca; Yolanda Campos-González; Joaquín Arenas-Barbero; Elena Pintos-Martínez; Jesús Eirís-Puñal
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric neurology     Volume:  34     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2006 Mar 
Date Detail:
Created Date:  2006-02-28     Completed Date:  2006-06-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  204-11     Citation Subset:  IM    
Departamento de Pediatría, Servicio de Neuropediatría Hospital 12 de Octubre, Madrid, Spain.
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MeSH Terms
Child, Preschool
Chromosome Deletion
Cross-Sectional Studies
DNA, Mitochondrial / genetics
Diagnosis, Differential
Leigh Disease / diagnosis,  epidemiology,  genetics
Mitochondrial Diseases / diagnosis,  epidemiology*,  genetics
Mitochondrial Encephalomyopathies / diagnosis,  epidemiology,  genetics
Point Mutation
Reg. No./Substance:
0/DNA, Mitochondrial

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