1. Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients.
- Author
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van Vliet K, Rodenburg IL, van Ginkel WG, Lubout CMA, Wolffenbuttel BHR, van der Klauw MM, Heiner-Fokkema MR, and van Spronsen FJ
- Subjects
- Adolescent, Adult, Aged, Amino Acids adverse effects, Biomarkers blood, Biopterins analogs & derivatives, Biopterins therapeutic use, Child, Child, Preschool, Cyclohexanones therapeutic use, Enzyme Inhibitors therapeutic use, Female, Humans, Infant, Male, Middle Aged, Nitrobenzoates therapeutic use, Phenylketonurias blood, Phenylketonurias diagnosis, Phenylketonurias physiopathology, Retrospective Studies, Risk Assessment, Risk Factors, Tyrosinemias blood, Tyrosinemias physiopathology, Vitamin B 12 Deficiency blood, Vitamin B 12 Deficiency diagnosis, Vitamin B 12 Deficiency etiology, Vitamin D Deficiency blood, Vitamin D Deficiency diagnosis, Vitamin D Deficiency etiology, Young Adult, Amino Acids administration & dosage, Diet, Protein-Restricted adverse effects, Dietary Supplements adverse effects, Micronutrients blood, Nutritional Status, Phenylketonurias diet therapy, Tyrosinemias diet therapy
- Abstract
Phenylketonuria (PKU) is treated with dietary restrictions and sometimes tetrahydrobiopterin (BH4). PKU patients are at risk for developing micronutrient deficiencies, such as vitamin B12 and folic acid, likely due to their diet. Tyrosinemia type 1 (TT1) is similar to PKU in both pathogenesis and treatment. TT1 patients follow a similar diet, but nutritional deficiencies have not been investigated yet. In this retrospective study, biomarkers of micronutrients in TT1 and PKU patients were investigated and outcomes were correlated to dietary intake and anthropometric measurements from regular follow-up measurements from patients attending the outpatient clinic. Data was analyzed using Kruskal-Wallis, Fisher's exact and Spearman correlation tests. Furthermore, descriptive data were used. Overall, similar results for TT1 and PKU patients (with and without BH4) were observed. In all groups high vitamin B12 concentrations were seen rather than B12 deficiencies. Furthermore, all groups showed biochemical evidence of vitamin D deficiency. This study shows that micronutrients in TT1 and PKU patients are similar and often within the normal ranges and that vitamin D concentrations could be optimized.
- Published
- 2019
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