Cytochrome C oxidase deficiency in childhood

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F09%3A4071" target="_blank" >RIV/00064165:_____/09:4071 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/09:4071

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Cytochrome C oxidase deficiency in childhood

Popis výsledku v původním jazyce

Cytochrome c oxidase (COX) is the terminal enzyme of the respiratory chain. COX deficiency is the most common mitochondrial disease in childhood. We present results of the clinical, biochemical and molecular analyses in 106 children. Isolated COX deficiency was found in 51 children and COX deficiency combined with decreased activity another respiratory chain complex in 55 children. Failure to thrive was observed in 64% of children, encephalopathy in 90%, hypotonia in 72%, Leigh syndrome in 20% and cardiomyopathy in 23%. Increased levels of lactate and alanine were found in blood and CSF. 72% of children died in early childhood. Mutations c.845_846delCT in SURF1 and g.1541G>A in SCO2 gene were prevalent. Mitochondrial disorders represent a heterogeneousgroup of diseases. Owing to their incidence, absence of therapy and serious social-economical consequences, elucidation of the mechanisms of mitochondrial dysfunction is essential for diagnostics, prevention and future therapeutic protoc

Název v anglickém jazyce

Cytochrome C oxidase deficiency in childhood

Popis výsledku anglicky

Cytochrome c oxidase (COX) is the terminal enzyme of the respiratory chain. COX deficiency is the most common mitochondrial disease in childhood. We present results of the clinical, biochemical and molecular analyses in 106 children. Isolated COX deficiency was found in 51 children and COX deficiency combined with decreased activity another respiratory chain complex in 55 children. Failure to thrive was observed in 64% of children, encephalopathy in 90%, hypotonia in 72%, Leigh syndrome in 20% and cardiomyopathy in 23%. Increased levels of lactate and alanine were found in blood and CSF. 72% of children died in early childhood. Mutations c.845_846delCT in SURF1 and g.1541G>A in SCO2 gene were prevalent. Mitochondrial disorders represent a heterogeneousgroup of diseases. Owing to their incidence, absence of therapy and serious social-economical consequences, elucidation of the mechanisms of mitochondrial dysfunction is essential for diagnostics, prevention and future therapeutic protoc

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

<a href="/cs/project/NR9410" target="_blank" >NR9410: Mitochondriální energetický metabolismus v perinatálním období</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2009

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Paediatria Croatica

ISSN

1330-1403

e-ISSN

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Svazek periodika

53

Číslo periodika v rámci svazku

suppl. 1

Stát vydavatele periodika

HR - Chorvatská republika

Počet stran výsledku

5

Strana od-do

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Kód UT WoS článku

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EID výsledku v databázi Scopus

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