Welcome to CDC stacks |
Stacks Logo
Advanced Search
Select up to three search categories and corresponding keywords using the fields to the right. Refer to the Help section for more detailed instructions.
 
 
Help
Clear All Simple Search
Advanced Search
Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA–ESI–MS/MS analysis of dried blood spot extracts for newborn screening
Filetype[PDF-396.95 KB]


Details:
  • Alternative Title:
    Clin Biochem
  • Personal Author:
  • Description:
    Objectives

    The goal of this study was to include the quantitation of hexacosanoyl lysophosphatidylcholine, a biomarker for X-linked adrenoleukodystrophy and other peroxisomal disorders, in the routine extraction and analysis procedure used to quantitate amino acids, acylcarnitines, and succinylacetone during newborn screening. Criteria for the method included use of a single punch from a dried blood spot, one simple extraction of the punch, no high-performance liquid chromatography, and utilizing tandem mass spectrometry to quantitate the analytes.

    Design and methods

    Dried blood spot punches were extracted with a methanolic solution of stable-isotope labeled internal standards, formic acid, and hydrazine, followed by flow injection analysis–electrospray ionization–tandem mass spectrometry.

    Results

    Quantitation of amino acids, acylcarnitines, and hexacosanoyl lysophosphatidylcholine using this combined method was similar to results obtained using two separate methods.

    Conclusions

    A single dried blood spot punch extracted by a rapid (45 min), simple procedure can be analyzed with high throughput (2 min per sample) to quantitate amino acids, acylcarnitines, succinylacetone, and hexacosanoyl lysophosphatidylcholine.

  • Subject:
  • Pubmed ID:
    26432925
  • Pubmed Central ID:
    PMC4836612
  • Document Type:
    Journal Article
  • Funding:
    CC999999/Intramural CDC HHS/United States
  • Collection(s):
    CDC Public Access
  • Main Document Checksum:
No Related Documents.
You May Also Like:
  1. The stability of hexacosanoyl lysophosphatidylcholine in dried-blood spot quality control materials for X-linked adrenoleukodystrophy newborn screening
    Personal Author:
    Haynes, Christopher A.; De Jesús, Víctor R.;
    Published Date:
    Oct 12 2014
    Source:
    Clin Biochem. 48(1-2):8-10.
    Description:
    ObjectivesNewborn screening for X-linked adrenoleukodystrophy utilizes tandem mass spectrometry to analyze dried-blood spot specimens. Quality control materials (dried-blood spots enriched with hexacosanoyl lysophosphatidylcholine) were prepared and ...
    File Type:
    Filetype[PDF - 83.55 KB]
  2. Non-derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots by Tandem Mass Spectrometry
    Personal Author:
    Asef, Carter K.; Khaksarfard, Kameron M.; De Jesús, Víctor R.;
    Published Date:
    Nov 24 2016
    Source:
    Int J Neonatal Screen. 2(4).
    Description:
    Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive genetic disorder which results in global developmental delay and intellectual disability. There is evidence that early treatment prevents intellectual disability and seizu...
    File Type:
    Filetype[PDF - 429.65 KB]
  3. The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-five Year Experience Assuring Newborn Screening Laboratory Quality
    Personal Author:
    De Jesús, Víctor R.; Mei, Joanne V.; Cordovado, Suzanne K.; Cuthbert, Carla D.;
    Published Date:
    2015
    Source:
    Int J Neonatal Screen. 1(1):13-26.
    Description:
    Newborn screening is the largest genetic testing effort in the United States and is considered one of the ten great public health achievements during the first 10 years of the 21(st) century. For over 35 years, the Newborn Screening Quality Assurance...
    File Type:
    Filetype[PDF - 477.58 KB]
  4. Newborn Screening Quality Assurance Program annual summary report 2015
    Corporate Authors:
    National Center for Environmental Health (U.S.). Division of Laboratory Sciences. Newborn Screening and Molecular Biology Branch.. Corporate Author:. Association of Public Health Laboratories (U.S.).
    Published Date:
    8/1/16
    Series:
    Newborn Screening Quality Assurance Program annual summary report ; v. 33b
    Description:
    AMENDED REPORT- Version 33a of the Newborn Screening Annual Summary Report reflects a correction in domestic and foreign cutoff statistics (pages 9-14) and the sample table in Figure 4 (page21). Version 33b corrects the title of Figures 2 & 3 (page 5...
    File Type:
    Filetype[PDF - 4.35 MB]
  5. Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and its Measurement by Newborn Screening Programs
    Personal Author:
    De Jesús, Víctor R.; Adam, Barbara W.; Mandel, Daniel; Cuthbert, Carla D.; Matern, Dietrich;
    Published Date:
    2014 Sep-Oct
    Source:
    Mol Genet Metab. 113(0):67-75.
    Description:
    Tyrosinemia type I (TYR I) is caused by autosomal recessive fumarylacetoacetate hydrolase deficiency and is characterized by development of severe liver disease in infancy and neurologic crises. If left untreated, most patients die of liver failure i...
    File Type:
    Filetype[PDF - 592.05 KB]