Abstract
Keywords
Background
Amino acids and proteins
- Grier R.E.
- Gahl W.A.
- Cowan T.
- Bernardini I.
- McDowell G.A.
- Rinaldo P.
General description of amino acidemias and acidurias
Secondary amino acid abnormalities
Incidence
Mode of inheritance
Methods
American College of Medical Genetics and Genomics. Standards andguidelines for clinical genetics laboratories. 2008. http://www.acmg.net/PDFLibrary/Standards-Guidelines-Clinical-Biochemical-Genetics.pdf.
Preanalytical requirements
Specimen requirements
Sample handling, shipping, and storage
Preanalytical variables
Clinical indications for testing
- 1.Lethargy, coma, seizures, or vomiting in aneonate
- 2.Hyperammonemia
- 3.Failure to thrive
- 4.Electrolyte abnormalities, including metabolicacidosis or respiratory alkalosis
- 5.Lactic acidemia
- 6.Unexplained developmental delay or intellectualdisability
- 7.Abnormal newborn screening results
- 8.A previously diagnosed sibling
- 9.Clinical presentation suggestive of a specificamino acid disorder
- 10.Monitoring treatment efficacy (e.g., dietary) ofknown patients
Method validation
Calibration and quantitation
- Pappa-Louisi A.
- Nikitas P.
- Agrafiotou P.
- Papageorgiou A.
Reference ranges
Testing personnel
Analysis of amino acids
Analytical methods
Overview of methods
- Piraud M.
- Vianey-Saban C.
- Petritis K.
- Elfakir C.
- Steghens J.P.
- Bouchu D.
- Waterval W.A.
- Scheijen J.L.
- Ortmans-Ploemen M.M.
- Habets-van der Poel C.D.
- Bierau J.
Ion exchange chromatography (IEC)
Pickering Laboratories. Amino acid analysis part 1. https://www.pickeringlabs.com/library/primers/amino-acid-analysis-part-1/. Accessed 26 December 2016.
Ultra Performance Liquid Chromatography (UPLC)
Tandem mass spectrometry methods
- Piraud M.
- Vianey-Saban C.
- Petritis K.
- Elfakir C.
- Steghens J.P.
- Bouchu D.
- Waterval W.A.
- Scheijen J.L.
- Ortmans-Ploemen M.M.
- Habets-van der Poel C.D.
- Bierau J.
- Piraud M.
- Vianey-Saban C.
- Petritis K.
- Elfakir C.
- Steghens J.P.
- Bouchu D.
- Waterval W.A.
- Scheijen J.L.
- Ortmans-Ploemen M.M.
- Habets-van der Poel C.D.
- Bierau J.
- Piraud M.
- Vianey-Saban C.
- Petritis K.
- Elfakir C.
- Steghens J.P.
- Bouchu D.
- Waterval W.A.
- Scheijen J.L.
- Ortmans-Ploemen M.M.
- Habets-van der Poel C.D.
- Bierau J.
William C, Molinaro RJ, Bachmann LM, et al. Clinical and LaboratoryStandards Institute (CLSI): Wayne, PA, 2014. https://clsi.org/media/1346/c62a_sample.pdf.
- Piraud M.
- Vianey-Saban C.
- Petritis K.
- Elfakir C.
- Steghens J.P.
- Bouchu D.
- Waterval W.A.
- Scheijen J.L.
- Ortmans-Ploemen M.M.
- Habets-van der Poel C.D.
- Bierau J.
William C, Molinaro RJ, Bachmann LM, et al. Clinical and LaboratoryStandards Institute (CLSI): Wayne, PA, 2014. https://clsi.org/media/1346/c62a_sample.pdf.
- Piraud M.
- Vianey-Saban C.
- Petritis K.
- Elfakir C.
- Steghens J.P.
- Bouchu D.
- Waterval W.A.
- Scheijen J.L.
- Ortmans-Ploemen M.M.
- Habets-van der Poel C.D.
- Bierau J.
- Piraud M.
- Vianey-Saban C.
- Petritis K.
- et al.
- Piraud M.
- Vianey-Saban C.
- Petritis K.
- Elfakir C.
- Steghens J.P.
- Bouchu D.
- Waterval W.A.
- Scheijen J.L.
- Ortmans-Ploemen M.M.
- Habets-van der Poel C.D.
- Bierau J.
- Piraud M.
- Vianey-Saban C.
- Petritis K.
- et al.
- Waterval W.A.
- Scheijen J.L.
- Ortmans-Ploemen M.M.
- Habets-van der Poel C.D.
- Bierau J.
- Piraud M.
- Vianey-Saban C.
- Petritis K.
- Elfakir C.
- Steghens J.P.
- Bouchu D.
Quality control
Proficiency testing
Test interpretation and reporting
Interpretation
Reporting
Ethics declarations
Disclosure
Acknowledgements
Additional information
Disclaimer
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