Csaba Sumanszki1, Erika Kiss2, Erika Simon2, Erika Galgoczi3, Aron Soos4, Attila Patocs5,6, Bela Kovacs4, Endre V Nagy3, Peter Reismann7. 1. 2nd Department of Medicine, Semmelweis University, Budapest, Hungary. 2. 1st Department of Pediatrics, Semmelweis University, Budapest, Hungary. 3. Division of Endocrinology, Department of Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary. 4. Institute of Food Science, Faculty of Agricultural and Food Science and Environmental Management, University of Debrecen, Debrecen, Hungary. 5. Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary. 6. "Lendület" Hereditary Endocrine Tumours Research Group, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary. 7. 2nd Department of Medicine, Semmelweis University, Budapest, Hungary, reismann.peter@med.semmelweis-univ.hu.
Abstract
BACKGROUND: The standard, lifelong therapy of phenylketonuria (PKU) is a natural protein-restricted diet complemented with phenylalanine (Phe)-free L-amino acid mixtures that provide the daily necessary micronutrients. OBJECTIVE: To assess thyroid function and structure and the iodine status of early-treated adult PKU (ETPKU) patients in Hungary. METHODS: Sixty-nine PKU patients (aged 18-41 years) and 50 healthy controls were enrolled in the study. Thyroid hormones, serum thyroglobulin, thyroid antibodies, urinary iodine, and selenium concentrations were measured, and thyroid ultrasound was performed. RESULTS: The incidence of thyroid dysfunction was infrequent (n = 2). Blood Phe was negatively correlated with thyroid-stimulating hormone (TSH), and PKU patients had higher free thyroxine and lower TSH levels than healthy controls. Although optimal iodine status was found in the entire PKU population, by dividing the patients according to their therapy compliance, we observed that lower therapy adherence was associated with mild iodine deficiency and lower urinary selenium levels. CONCLUSIONS: The results of this study suggest that iodine status is strongly influenced by the adherence to therapy in ETPKU patients. No or not enough medical food consumption combined with a low-Phe diet can lead to subclinical iodine deficiency.
BACKGROUND: The standard, lifelong therapy of phenylketonuria (PKU) is a natural protein-restricted diet complemented with phenylalanine (Phe)-free L-amino acid mixtures that provide the daily necessary micronutrients. OBJECTIVE: To assess thyroid function and structure and the iodine status of early-treated adult PKU (ETPKU) patients in Hungary. METHODS: Sixty-nine PKUpatients (aged 18-41 years) and 50 healthy controls were enrolled in the study. Thyroid hormones, serum thyroglobulin, thyroid antibodies, urinary iodine, and selenium concentrations were measured, and thyroid ultrasound was performed. RESULTS: The incidence of thyroid dysfunction was infrequent (n = 2). Blood Phe was negatively correlated with thyroid-stimulating hormone (TSH), and PKUpatients had higher free thyroxine and lower TSH levels than healthy controls. Although optimal iodine status was found in the entire PKU population, by dividing the patients according to their therapy compliance, we observed that lower therapy adherence was associated with mild iodine deficiency and lower urinary selenium levels. CONCLUSIONS: The results of this study suggest that iodine status is strongly influenced by the adherence to therapy in ETPKU patients. No or not enough medical food consumption combined with a low-Phe diet can lead to subclinical iodine deficiency.
Authors: Kimber van Vliet; Iris L Rodenburg; Willem G van Ginkel; Charlotte M A Lubout; Bruce H R Wolffenbuttel; Melanie M van der Klauw; M Rebecca Heiner-Fokkema; Francjan J van Spronsen Journal: Nutrients Date: 2019-08-27 Impact factor: 5.717