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Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.

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Title: Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.
Authors: Rotig, Agnes, Appelkvist, Eeva-Liisa, Geromel, Vanna, Chretien, Dominique, Kadhom, Noman, Edery, Patrick, Lebideau, Marc, Dallner, Gustav, Munnich, Arnold, Ernster, Lars, Rustin, Pierre
Source: Lancet. 7/29/2000, Vol. 356 Issue 9227, p391. 5p. 4 Black and White Photographs, 2 Charts.
Subjects: Respiratory diseases, Ubiquinones, Enzymes, Deficiency diseases
Abstract: SummaryBackground: The respiratory-chain deficiencies are a broad group of largely untreatable diseases. Among them, coenzyme Q10 (ubiquinone) deficiency constitutes a subclass that deserves early and accurate diagnosis.Methods: We assessed respiratory-chain function in two siblings with severe encephalomyopathy and renal failure. We used high-performance liquid chromatography analyses, combined with radiolabelling experiments, to quantify cellular coenzyme Q10 content. Clinical follow-up and detailed biochemical investigations of respiratory chain activity were carried out over the 3 years of oral quinone administration.Findings: Deficiency of coenzyme Q10-dependent respiratory-chain activities was identified in muscle biopsy, circulating lymphocytes, and cultured skin fibroblasts. Undetectable coenzyme Q10 and results of radiolabelling experiments in cultured fibroblasts supported the diagnosis of widespread coenzyme Q10 deficiency. Stimulation of respiration and fibroblast enzyme activities by exogenous quinones in vitro prompted us to treat the patients with oral ubidecarenone (5 mg/kg daily), which resulted in a substantial improvement of their condition over 3 years of therapy.Interpretation: Particular attention should be paid to multiple quinone-responsive respiratory-chain enzyme deficiency because this rare disorder can be successfully treated by oral ubidecarenone. [ABSTRACT FROM AUTHOR]
Copyright of Lancet is the property of Lancet and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.
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  Data: <searchLink fieldCode="AR" term="%22Rotig%2C+Agnes%22">Rotig, Agnes</searchLink><br /><searchLink fieldCode="AR" term="%22Appelkvist%2C+Eeva-Liisa%22">Appelkvist, Eeva-Liisa</searchLink><br /><searchLink fieldCode="AR" term="%22Geromel%2C+Vanna%22">Geromel, Vanna</searchLink><br /><searchLink fieldCode="AR" term="%22Chretien%2C+Dominique%22">Chretien, Dominique</searchLink><br /><searchLink fieldCode="AR" term="%22Kadhom%2C+Noman%22">Kadhom, Noman</searchLink><br /><searchLink fieldCode="AR" term="%22Edery%2C+Patrick%22">Edery, Patrick</searchLink><br /><searchLink fieldCode="AR" term="%22Lebideau%2C+Marc%22">Lebideau, Marc</searchLink><br /><searchLink fieldCode="AR" term="%22Dallner%2C+Gustav%22">Dallner, Gustav</searchLink><br /><searchLink fieldCode="AR" term="%22Munnich%2C+Arnold%22">Munnich, Arnold</searchLink><br /><searchLink fieldCode="AR" term="%22Ernster%2C+Lars%22">Ernster, Lars</searchLink><br /><searchLink fieldCode="AR" term="%22Rustin%2C+Pierre%22">Rustin, Pierre</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Lancet%22">Lancet</searchLink>. 7/29/2000, Vol. 356 Issue 9227, p391. 5p. 4 Black and White Photographs, 2 Charts.
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  Data: <searchLink fieldCode="DE" term="%22Respiratory+diseases%22">Respiratory diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Ubiquinones%22">Ubiquinones</searchLink><br /><searchLink fieldCode="DE" term="%22Enzymes%22">Enzymes</searchLink><br /><searchLink fieldCode="DE" term="%22Deficiency+diseases%22">Deficiency diseases</searchLink>
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  Data: SummaryBackground: The respiratory-chain deficiencies are a broad group of largely untreatable diseases. Among them, coenzyme Q10 (ubiquinone) deficiency constitutes a subclass that deserves early and accurate diagnosis.Methods: We assessed respiratory-chain function in two siblings with severe encephalomyopathy and renal failure. We used high-performance liquid chromatography analyses, combined with radiolabelling experiments, to quantify cellular coenzyme Q10 content. Clinical follow-up and detailed biochemical investigations of respiratory chain activity were carried out over the 3 years of oral quinone administration.Findings: Deficiency of coenzyme Q10-dependent respiratory-chain activities was identified in muscle biopsy, circulating lymphocytes, and cultured skin fibroblasts. Undetectable coenzyme Q10 and results of radiolabelling experiments in cultured fibroblasts supported the diagnosis of widespread coenzyme Q10 deficiency. Stimulation of respiration and fibroblast enzyme activities by exogenous quinones in vitro prompted us to treat the patients with oral ubidecarenone (5 mg/kg daily), which resulted in a substantial improvement of their condition over 3 years of therapy.Interpretation: Particular attention should be paid to multiple quinone-responsive respiratory-chain enzyme deficiency because this rare disorder can be successfully treated by oral ubidecarenone. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Lancet is the property of Lancet and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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              Text: 7/29/2000
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