Micronutrient status in phenylketonuria

• Published in: Molecular genetics and metabolism Vol. 110; pp. S6 - S17
• Main Authors: Robert, M., Rocha, J.C., van Rijn, M., Ahring, K., Bélanger-Quintana, A., MacDonald, A., Dokoupil, K., Gokmen Ozel, H., Lammardo, A.M., Goyens, P., Feillet, F.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 2013; Elsevier
• Subjects: Adolescent; Adult; Aging; Child; Child, Preschool; Dietary Supplements; Female; Humans; Infant; Iron; Life Sciences; Male; Micronutrients; Micronutrients - administration & dosage; Micronutrients - deficiency; Minerals - administration & dosage; Nutritional Requirements; Nutritional Status; Patient Compliance; Phenylketonurias - complications; Phenylketonurias - diet therapy; Phenylketonurias - physiopathology; PKU; Selenium; Vitamin B 6 Deficiency - etiology; Vitamin B12; Vitamins - administration & dosage; Young Adult; Zinc; Micronutrients; Iron; PKU; Selenium; Vitamin B12; Zinc; Vitamin B
• ISSN: 1096-7192; 1096-7206
• DOI: 10.1016/j.ymgme.2013.09.009

Patients with phenylketonuria (PKU) encompass an ‘at risk’ group for micronutrient imbalances. Optimal nutrient status is challenging particularly when a substantial proportion of nutrient intake is from non-natural sources. In PKU patients following dietary treatment, supplementation with micronutrients is a necessity and vitamins and minerals should either be added to supplement phenylalanine-free l-amino acids or given separately. In this literature review of papers published since 1990, the prevalence of vitamin and mineral deficiency is described, with reference to age of treatment commencement, type of treatment, dietary compliance, and dietary practices. Biological micronutrient inadequacies have been mainly reported for zinc, selenium, iron, vitamin B12 and folate. The aetiology of these results and possible clinical and biological implications are discussed. In PKU there is not a simple relationship between the dietary intake and nutritional status, and there are many independent and interrelated complex factors that should be considered other than quantitative nutritional intake.