Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".

Minkler, Paul E; Stoll, Maria S K; Ingalls, Stephen T; Kerner, Janos; Hoppel, Charles L

Minkler, Paul E; Stoll, Maria S K; Ingalls, Stephen T; Kerner, Janos; Hoppel, Charles L.

Affiliation

Minkler PE; Center for Mitochondrial Diseases, Department of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
Stoll MS; Center for Mitochondrial Diseases, Department of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
Ingalls ST; Center for Mitochondrial Diseases, Department of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
Kerner J; Center for Mitochondrial Diseases, Department of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
Hoppel CL; Center for Mitochondrial Diseases, Department of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA; Department of Medicine, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA. Electronic address: charles.hoppel@case.edu.

Mol Genet Metab ; 116(4): 231-41, 2015 Dec.

Article in En | MEDLINE | ID: mdl-26458767

Subject(s)

Acetyl-CoA C-Acyltransferase/deficiency; Acyl-CoA Dehydrogenase/deficiency; Amino Acid Metabolism, Inborn Errors/diagnosis; Carbon-Carbon Ligases/deficiency; Carnitine/analogs & derivatives; Lipid Metabolism, Inborn Errors/diagnosis; Urea Cycle Disorders, Inborn/diagnosis; Acetyl-CoA C-Acyltransferase/blood; Acetyl-CoA C-Acyltransferase/cerebrospinal fluid; Acetyl-CoA C-Acyltransferase/urine; Acyl-CoA Dehydrogenase/blood; Acyl-CoA Dehydrogenase/cerebrospinal fluid; Acyl-CoA Dehydrogenase/urine; Amino Acid Metabolism, Inborn Errors/blood; Amino Acid Metabolism, Inborn Errors/cerebrospinal fluid; Amino Acid Metabolism, Inborn Errors/urine; Betaine/analogs & derivatives; Betaine/blood; Betaine/cerebrospinal fluid; Betaine/urine; Carbon-Carbon Ligases/blood; Carbon-Carbon Ligases/cerebrospinal fluid; Carbon-Carbon Ligases/urine; Carnitine/blood; Carnitine/cerebrospinal fluid; Carnitine/urine; Chromatography, High Pressure Liquid/methods; Chromatography, High Pressure Liquid/standards; Female; Humans; Infant, Newborn; Isomerism; Lipid Metabolism, Inborn Errors/blood; Lipid Metabolism, Inborn Errors/cerebrospinal fluid; Lipid Metabolism, Inborn Errors/urine; Male; Neonatal Screening; Reproducibility of Results; Sensitivity and Specificity; Tandem Mass Spectrometry/standards; Urea Cycle Disorders, Inborn/blood; Urea Cycle Disorders, Inborn/cerebrospinal fluid; Urea Cycle Disorders, Inborn/urine

Key words

Carnitine analysis; Metabolism research; Newborn screening follow-up; Quantitative acylcarnitine analysis; Second-tier analysis

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acetyl-CoA C-Acyltransferase / Carnitine / Carbon-Carbon Ligases / Acyl-CoA Dehydrogenase / Urea Cycle Disorders, Inborn / Amino Acid Metabolism, Inborn Errors / Lipid Metabolism, Inborn Errors Type of study: Diagnostic_studies Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2015 Document type: Article Affiliation country: United States Country of publication: United States

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