Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling.

Claesen, Joep L A; Koomen, Erik; Schene, Imre F; Jans, Judith J M; Mast, Natalia; Pikuleva, Irina A; van der Ham, Maria; de Sain-van der Velden, Monique G M; Fuchs, Sabine A

Claesen, Joep L A; Koomen, Erik; Schene, Imre F; Jans, Judith J M; Mast, Natalia; Pikuleva, Irina A; van der Ham, Maria; de Sain-van der Velden, Monique G M; Fuchs, Sabine A.

Afiliação

Claesen JLA; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, Netherlands.
Koomen E; Department of Paediatric Intensive Care, University Medical Center Utrecht, Utrecht, Netherlands.
Schene IF; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, Netherlands.
Jans JJM; Department of Genetics, Section Metabolic Diagnostics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, Netherlands.
Mast N; Department of Ophthalmology and Visual Sciences, Case Western Reserve University, Cleveland, Ohio.
Pikuleva IA; Department of Ophthalmology and Visual Sciences, Case Western Reserve University, Cleveland, Ohio.
van der Ham M; Department of Genetics, Section Metabolic Diagnostics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, Netherlands.
de Sain-van der Velden MGM; Department of Genetics, Section Metabolic Diagnostics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, Netherlands.
Fuchs SA; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, Netherlands.

J Inherit Metab Dis ; 43(4): 843-851, 2020 07.

Article em En | MEDLINE | ID: mdl-31990370

Assuntos

Anestésicos Intravenosos/farmacologia; Ácidos e Sais Biliares/metabolismo; Bile/efeitos dos fármacos; Propofol/farmacologia; Xantomatose Cerebrotendinosa/diagnóstico; Adolescente; Anestésicos Intravenosos/administração & dosagem; Bile/metabolismo; Criança; Pré-Escolar; Colestanotriol 26-Mono-Oxigenase/efeitos dos fármacos; Colestanotriol 26-Mono-Oxigenase/genética; Colesterol/metabolismo; Erros de Diagnóstico; Feminino; Humanos; Masculino; Espectrometria de Massas; Propofol/administração & dosagem; Estudos Prospectivos; Xantomatose Cerebrotendinosa/genética

Palavras-chave

2,6-diisopropylphenol; CTX; CYP27A1; bile acid profiling; cerebrotendinous xanthomatosis; cytochrome P450 27A1; propofol

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Bile / Ácidos e Sais Biliares / Propofol / Anestésicos Intravenosos / Xantomatose Cerebrotendinosa Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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