Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: Comparison of methods

Genetics in Medicine

Volumn 9, Issue 11, 2007, Pages 761-765

  Gregory, Cria O ^a   Yu, Chunli ^b   Singh, Rani H ^a,c  

^a EMORY UNIVERSITY   (United States)

^b Biochemical Genetics Laboratory   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Amino acid analyzer; High performance liquid chromatography; Phenylalanine; PKU; Tandem mass spectrometry

Indexed keywords

PHENYLALANINE;

ADOLESCENT; ADULT; AMINO ACID ANALYSIS; AMINO ACID BLOOD LEVEL; ANALYZER; ARTICLE; BLOOD ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; DIET; FEMALE; FLUOROMETRY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; PATIENT COMPLIANCE; PHENYLKETONURIA; SCHOOL CHILD; TANDEM MASS SPECTROMETRY;

ADOLESCENT; ADULT; CHILD; DIET; FEMALE; HUMANS; MIDDLE AGED; MONITORING, PHYSIOLOGIC; PATIENT COMPLIANCE; PHENYLALANINE; PHENYLKETONURIAS;

EID: 36248962143     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318159a355     Document Type: Article

References (19)

1. Wappner R, Cho S, Kronmal RA, Schuett V, et al. Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors. Pediatrics 1999;104:e68.
2. Phenylketonuria: Screening and Management: NIH Consensus Statement; October 16-18, 2000;17:1-27.
3. Rouse B, Azen C, Koch R, Matalon R, et al. Maternal Phenylketonuria Collaborative Study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelae. Am J Med Genet 1997;69:89-95.
4. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338-343.
5. Gerasimova NS, Steklova IV, Tuuminen T. Fluorometric method for phenylalanine microplate assay adapted for phenylketonuria screening. Clin Chem 1989;35:2112-2115.
6. Roesel RA, Blankenship PR, Hommes FA. HPLC assay of phenylalanine and tyrosine in blood spots on filter paper. Clin Chim Acta 1986;156:91-96.
7. Rudy JL, Rutledge JC, Lewis SL. Phenylalanine and tyrosine in serum and eluates from dried blood spots as determined by reversed-phase liquid chromatography. Clin Chem 1987;33:1152-1154.
8. Chace DH, Sherwin JE, Hillman SL, Lorey F, et al. Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours. Clin Chem 1998;44:2405-2409.
9. Rashed MS, Ozand PT, Bucknall MP, Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 1995;38:324-331.
10. Ceglarek U, Muller P, Stach B, Buhrdel P, et al. Validation of the phenylalanine/tyrosine ratio determined by tandem mass spectrometry: sensitive newborn screening for phenylketonuria. Clin Chem Lab Med 2002;40:693-697.
11. Schulze A, Lindner M, Kohlmuller D, Olgemoller K, et al. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003;111:1399-1406.
12. Singh RH, Kable JA, Guerrero NV, Sullivan KM, et al. Impact of a camp experience on phenylalanine levels, knowledge, attitudes, and health beliefs relevant to nutrition management of phenylketonuria in adolescent girls. J Am Diet Assoc 2000;100:797-803.
13. Hommes FA. Techniques in diagnostic human biochemical genetics: a laboratory manual. New York: John Wiley, 1991.
14. Cohen SA, Michaud DP. Synthesis of a fluorescent derivatizing reagent, 6-aminoquinolyl-N-hydroxysuccinimidyl carbamate, and its application for the analysis of hydrolysate amino acids via high-performance liquid chromatography. Anal Biochem 1993;211:279-287.
15. Bland JM, Altman DG. Statistical methods for assessing agreement between two methods of clinical measurement. Lancet 1986;1:307-310.
16. O'Broin SD, Kelleher BP, Gunter E. Evaluation of factors influencing precision in the analysis of samples taken from blood spots on filter paper. Clin Lab Haematol 1995;17:185-188.
17. Adam BW, Alexander JR, Smith SJ, Chace DH, et al. Recoveries of phenylalanine from two sets of dried-blood-spot reference materials: prediction from hematocrit, spot volume, and paper matrix. Clin Chem 2000;46:126-128.
18. Allard P, Cowell LD, Zytkovicz TH, Korson MS, et al. Determination of phenylalanine and tyrosine in dried blood specimens by ion-exchange chromatography using the Hitachi L-8800 analyzer. Clin Biochem 2004;37:857-862.
19. Dale Y, Mackey V, Mushi R, Nyanda A, et al. Simultaneous measurement of phenylalanine and tyrosine in phenylketonuric plasma and dried blood by high-performance liquid chromatography. J Chromatogr B Analyt Technol Biomed Life Sci 2003;788:1-8.