About: Cytochrome C oxidase deficiency in childhood

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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. (en)
Title	Cytochrome C oxidase deficiency in childhood Cytochrome C oxidase deficiency in childhood (en)
skos:prefLabel	Cytochrome C oxidase deficiency in childhood Cytochrome C oxidase deficiency in childhood (en)
skos:notation	RIV/00216208:11110/09:4071!RIV10-MZ0-11110___
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(NR9410)
http://linked.open...iv/cisloPeriodika	suppl. 1
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Zeman, Jiří Magner, Martin Veselá, Kateřina Hansíková, Hana
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	308811
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/09:4071
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	cytochrome C oxidase deficiency; SURF1; SCO2; mtDNA; Leigh syndrome (en)
http://linked.open.../riv/klicoveSlovo	Leigh syndrome SCO2 SURF1 cytochrome C oxidase deficiency mtDNA
http://linked.open...odStatuVydavatele	HR - Chorvatská republika
http://linked.open...ontrolniKodProRIV	[BB0463FECA52]
http://linked.open...i/riv/nazevZdroje	Paediatria Croatica
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	4 (xsd:int)
http://linked.open...vavai/riv/projekt	Biochemical and molecular basis of mitochondrial energetic metabolism in neonates
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	53
http://linked.open...iv/tvurceVysledku	Magner, Martin Zeman, Jiří Veselá, Kateřina Hansíková, Hana
issn	1330-1403
number of pages	5 (xsd:int)
http://localhost/t...ganizacniJednotka	11110

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