Abstract | BACKGROUND: AIM: METHODS: Eighteen tyrosinemia type 1 patients aged >1 year (median age 7.9 years; range 1.6-20.7) were studied. Capillary blood samples were collected 4 times a day (T1: pre-breakfast, T2: pre-midday meal, T3: before evening meal, and T4: bedtime) for 3 days. Linear mixed-effect models were used to investigate diurnal and day-to-day variation of both phenylalanine and tyrosine. RESULTS: The coefficients of variation of phenylalanine and tyrosine concentrations were the lowest on T1 (13.8% and 14.1%, respectively). Tyrosine concentrations did not significantly differ between the different time points, but phenylalanine concentrations were significantly lower at T2 and T3 compared to T1 (50.1 μmol/L, 29.8 μmol/L, and 37.3 μmol/L, respectively). CONCLUSION:
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Authors | Esther van Dam, Anne Daly, Gineke Venema-Liefaard, Margreet van Rijn, Terry G J Derks, Patrick J McKiernan, M Rebecca Heiner-Fokkema, Anita MacDonald, Francjan J van Spronsen |
Journal | JIMD reports
(JIMD Rep)
Vol. 36
Pg. 49-57
( 2017)
ISSN: 2192-8304 [Print] United States |
PMID | 28120161
(Publication Type: Journal Article)
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