Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

Kimber van VlietWillem G van GinkelRianne JahjaAnne DalyAnita MacDonaldCorinne De LaetRoshni VaraYusof RahmanDavid CassimanFrancois EyskensCorrie TimmerNicky MumfordJörgen BierauPeter M van HasseltPaul GissenPhilippe J GoyensPatrick J McKiernanGisela WilcoxAndrew A M MorrisElisabeth A JamesonStephan C J HuijbregtsFrancjan J van Spronsen

Published in: Orphanet journal of rare diseases (2019)

TT1 patients showed several behavior problems and a lower HR-QoL. Associations with metabolic control differed for different age periods. This suggests the need for continuous fine-tuning and monitoring of dietary treatment to keep phenylalanine and tyrosine concentrations within target ranges in NTBC-treated TT1 patients.

Keyphrases

end stage renal disease
newly diagnosed
chronic kidney disease
ejection fraction
peritoneal dialysis
prognostic factors
patient reported