Unlabelled: Quantification of acylcarnitines is used for screening and diagnosis of inborn error of metabolism (IEM). While newborn screening is performed in dried blood spots (DBSs), general metabolic investigation is often performed in plasma. Information on the correlation between plasma and DBS acylcarnitine profiles is scarce. In this study, we directly compared acylcarnitine concentrations measured in DBS with those in the corresponding plasma sample. Additionally, we tested whether ratios of acylcarnitines in both matrices are helpful for diagnostic purpose when primary markers fail.
Study Design: DBS and plasma were obtained from controls and patients with a known IEM. (Acyl)carnitines were converted to their corresponding butyl esters and analyzed using HPLC/MS/MS.
Results: Free carnitine concentrations were 36% higher in plasma compared to DBS. In contrast, in patients with carnitine palmitoyltransferase 1 (CPT-1) deficiency free carnitine concentration in DBS was 4 times the concentration measured in plasma. In carnitine palmitoyltransferase 2 (CPT-2) deficiency, primary diagnostic markers were abnormal in plasma but could also be normal in DBS. The calculated ratios for CPT-1 (C0/(C16+C18)) and CPT-2 ((C16+C18:1)/C2) revealed abnormal values in plasma. However, normal ratios were found in DBS of two (out of five) samples obtained from patients diagnosed with CPT-2.
Conclusions: Relying on primary acylcarnitine markers, CPT-1 deficiency can be missed when analysis is performed in plasma, whereas CPT-2 deficiency can be missed when analysis is performed in DBS. Ratios of the primary markers to other acylcarnitines restore diagnostic recognition completely for CPT-1 and CPT-2 in plasma, while CPT-2 can still be missed in DBS.
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http://dx.doi.org/10.1016/j.ymgme.2013.04.008 | DOI Listing |
Gac Med Mex
January 2024
Departamento de Diagnóstico y Terapia Fetal, Centro Médico para Atención Fetal Especializada, Mexico City.
Gac Med Mex
January 2025
División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara.
Background: The usefulness of circulating free DNA (cfDNA), nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) as potential biomarkers in cancer remains controversial.
Objective: To determine the concentration of cfDNA and plasma nDNA and mtDNA levels in breast cancer (BC) patients.
Material And Methods: This study included a total of 86 women (69 patients with BC and 17 women as a control group).
Bioconjug Chem
January 2025
Biotherapeutics Discovery Research Center, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.
Hydrophobic payloads incorporated into antibody-drug conjugates (ADCs) typically are superior to hydrophilic ones in tumor penetration and "bystander killing" upon release from ADCs. However, they are prone to aggregation and accelerated plasma clearance, which lead to reduced efficacies and increased toxicities of ADC molecules. Shielding the hydrophobicity of payloads by incorporating polyethylene glycol (PEG) elements or sugar groups into the ADC linkers has emerged as a viable alternative to directly adopting hydrophilic payloads.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Department of Molecular Epidemiology, Graduate School of Medicine, Tohoku University, Sendai, Miyagi 980-8575, Japan.
Background: The association of maternal hyperglycemia with childhood developmental delay has been examined; however, only 2 studies used maternal blood glucose level as a continuous variable as an exposure. A present study aimed to investigate the influence of maternal fasting plasma glucose (mFPG) level in early gestation on developmental delay in children.
Methods: This cohort study included 1541 mother-child pairs who participated in the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study.
Mol Neurobiol
January 2025
Institute of Cerebrovascular Disease Research, Xuanwu Hospital of Capital Medical University, 45 Changchun Street, Beijing, 100053, China.
High concentrations of neutrophil degranulation products in the plasma and thrombi are poor prognostic indicators in patients with acute ischemic stroke (AIS). This study aimed to identify candidate effectors capable of mediating neutrophil degranulation post-AIS, and to reveal their underlying epigenetic mechanisms. Microarrays and ChIP-seq were applied to analyze the neutrophils of patients with AIS.
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