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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F09%3A4071%21RIV10-MZ0-11110___
rdf:type
skos:Concept n15:Vysledek
dcterms:description
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 heterogeneous group 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 protocols. 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 heterogeneous group 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 protocols.
dcterms:title
Cytochrome C oxidase deficiency in childhood Cytochrome C oxidase deficiency in childhood
skos:prefLabel
Cytochrome C oxidase deficiency in childhood Cytochrome C oxidase deficiency in childhood
skos:notation
RIV/00216208:11110/09:4071!RIV10-MZ0-11110___
n5:aktivita
n17:P
n5:aktivity
P(NR9410)
n5:cisloPeriodika
suppl. 1
n5:dodaniDat
n7:2010
n5:domaciTvurceVysledku
n10:6270875 n10:7786301 n10:5315263 n10:9177981
n5:druhVysledku
n16:J
n5:duvernostUdaju
n11:S
n5:entitaPredkladatele
n13:predkladatel
n5:idSjednocenehoVysledku
308811
n5:idVysledku
RIV/00216208:11110/09:4071
n5:jazykVysledku
n14:eng
n5:klicovaSlova
cytochrome C oxidase deficiency; SURF1; SCO2; mtDNA; Leigh syndrome
n5:klicoveSlovo
n8:mtDNA n8:SURF1 n8:SCO2 n8:Leigh%20syndrome n8:cytochrome%20C%20oxidase%20deficiency
n5:kodStatuVydavatele
HR - Chorvatská republika
n5:kontrolniKodProRIV
[BB0463FECA52]
n5:nazevZdroje
Paediatria Croatica
n5:obor
n18:FG
n5:pocetDomacichTvurcuVysledku
4
n5:pocetTvurcuVysledku
4
n5:projekt
n6:NR9410
n5:rokUplatneniVysledku
n7:2009
n5:svazekPeriodika
53
n5:tvurceVysledku
Hansíková, Hana Veselá, Kateřina Magner, Martin Zeman, Jiří
s:issn
1330-1403
s:numberOfPages
5
n4:organizacniJednotka
11110