Journal
JOURNAL OF CLINICAL LABORATORY ANALYSIS
Volume 34, Issue 3, Pages -Publisher
WILEY
DOI: 10.1002/jcla.23106
Keywords
amino acids; hyperphenylalaninemia; newborn screening; phenylalanine hydroxylase deficiency; phenylketonuria
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Funding
- National Natural Science Foundation of China [81600701] Funding Source: Medline
- Precision Medical Research of National Key Research and Development Program [2016YFC01955100] Funding Source: Medline
- The Program of Shanghai Health and Family Planning Commission [201440592] Funding Source: Medline
- The Program of Shanghai Education Commission [15ZZ061] Funding Source: Medline
- The Science and Technology Foundation Program of Shanghai Jiao Tong University School of Medicine [13XJ10034] Funding Source: Medline
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Background Hyperphenylalaninemia is the most common genetic metabolic disease. Early treatment prevents brain injury effectively. The present study aimed to detect the exact amino acid status of patients with hyperphenylalaninemia before treatment. Methods Data of 116 newborn patients from our Newborn Screening Center and 161 older patients from our clinic before treatment were collected. The content of 17 amino acids in their blood was determined by tandem mass spectrometry and compared with normal controls. Relationship between phenylalanine and other amino acids in patients was analyzed using the smoothing curve fitting and threshold effect analysis. Results Most amino acids in the blood of patients were within the normal range; however, they were different significantly from those of the normal children. Newborn patients showed higher phenylalanine (346.30 vs 45.90 mu mol/L), valine (121.50 vs 110.30 mu mol/L), citrulline, ornithine and lower tyrosine (52.97 vs 66.12 mu mol/L), threonine (68.68 vs 78.21 mu mol/L), glutamine levels than observed in normal newborns. Older patients showed significantly higher phenylalanine (844.00 vs 51.82 mu mol/L), valine (117.60 vs 110.90 mu mol/L), histidine, serine and lower tyrosine (55.97 vs 67.31 mu mol/L), threonine (35.94 vs 51.89 mu mol/L), alanine, asparagine, glutamic acid, methionine, arginine, glycine, ornithine, glutamine content than found in matched normal children. Tyrosine, valine, ornithine, and threonine in newborn patients and tyrosine, glycine, glutamine, and threonine in older patients had a nonlinear correlation with phenylalanine levels with obvious threshold effect and clear inflection points. Conclusion Significant difference was observed in the amino acid status between pretherapeutic hyperphenylalaninemia patients and normal children. Some amino acids showed notable threshold effect with phenylalanine level in a nonlinear pattern.
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