title: Role of creatine as biomarker of mitochondrial diseases.
abstract: Recent investigations have suggested creatine (Cr) as an additional biomarker of mitochondrial diseases. With the aim of corroborating previous findings, we have studied plasma Cr in a cohort of 33 patients with different mitochondrial diseases. Cr was clearly increased in 9 out of 33 patients. Therefore, positive patients represent only 28% of the total number, suggesting that Cr is not a sensitive biomarker of mitochondrial diseases although it does present an acceptable specificity (83%). High plasma Cr, together with other biomarkers, might be useful to reinforce the diagnosis of mitochondrial diseases.
authors: Sección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica y Genética Molecular, Hospital Clínic, CIBERER, IDIBAPS, Barcelona, Spain.
authors: Sonia
authors: S
authors: Pajares
authors: Angela
authors: A
authors: Arias
authors: Judit
authors: J
authors: García-Villoria
authors: Paz
authors: P
authors: Briones
authors: Antonia
authors: A
authors: Ribes
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003401:Creatine / Q000097:blood*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D019344:Lactic Acid / Q000097:blood; D028361:Mitochondrial Diseases / Q000097:blood* / Q000175:diagnosis*; D012372:ROC Curve; D055815:Young Adult
chemical_list: D015415:Biomarkers; D019344:Lactic Acid; D003401:Creatine