Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2 year prospective study

Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): Johannes KrämerAbstractIntroductionPhenylketonuria (PKU) is an inborn error of metabolism, which is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). Life-long Phe-free diet impairs quality of life, especially in adolescents and young adults which take responsibility over their diet and therapy from their parents, but expect freedom in daily routine.Methods and results105 patients with PKU were screened for eligibility for participating in this study. Data of 21 patients with genetic predictive value (GPV) ≤5 and age between 14 and 30 years were included in the analysis. Mean age of the study population was 22.6 ± 7.5 years, 8 patients (38%) were female. At baseline, structured counselling by a professional nutrionist was performed.Mean Phe-level at baseline was 926 ± 432 μmol/l, after six months Phe-levels were significantly reduced to 709 ± 314 μmol/l (p = .039), in total 4 additional patients (38% of the population) reached values within the therapeutic goal. After 12, 18 and 24 months, mean Phe-level elevated significantly to initial level (869 ± 427 μmol/l; p = .311). Mean daily intake of natural protein at baseline was 32.3 ± 24.3 g per day. There was a significant decrease after 6 months (26.9 ± 18.8 g/day; p = .049) and 12 months (25.9 ...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research

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