Luis Aldámiz-Echevarría1, María A Bueno2, María L Couce3, Sergio Lage4, Jaime Dalmau5, Isidro Vitoria6, Fernando Andrade7, Javier Blasco8, Carlos Alcalde9, David Gil10, María C García11, Domingo González-Lamuño12, Mónica Ruiz13, Luis Peña-Quintana14, María A Ruiz15, David González16, Felix Sánchez-Valverde17. 1. Division of Metabolism, Cruces University Hospital, Plaza de Cruces s/n, 48903 Barakaldo, Bizkaia, Spain. Electronic address: luisjose.aldamiz-echevarazuara@osakidetza.net. 2. Metabolic Disorders, Dietetics and Nutrition Unit, Virgen del Rocío University Hospital, Manuel Siurot Avenue, 41013 Sevilla, Spain. Electronic address: mbuenod@yahoo.es. 3. Metabolic Disorders Unit, Santiago de Compostela Clinic University Hospital, Choupana Street s/n, 15706 Santiago de Compostela, La Coruña, Spain. Electronic address: maria.luz.couce.pico@sergas.es. 4. Division of Metabolism, Cruces University Hospital, Plaza de Cruces s/n, 48903 Barakaldo, Bizkaia, Spain. Electronic address: laboratorio.metabolismo.cruces@osakidetza.net. 5. Nutrition and Metabolopathologies Unit, La Fe University Hospital, Bulevar Sur s/n, 46026 Valencia, Spain. Electronic address: dalmau_jai@gva.es. 6. Nutrition and Metabolopathologies Unit, La Fe University Hospital, Bulevar Sur s/n, 46026 Valencia, Spain. Electronic address: vitoria_isi@gva.es. 7. Division of Metabolism, Cruces University Hospital, Plaza de Cruces s/n, 48903 Barakaldo, Bizkaia, Spain. Electronic address: fernando.andradelodeiro@osakidetza.net. 8. Gastroenterology, Hepatology and Child Nutrition Unit, Carlos Haya University Hospital, Arroyo de los Ángeles Avenue, 29011 Málaga, Spain. Electronic address: javierblascoalonso@yahoo.es. 9. Pediatrics Unit, Río Hortega University Hospital, Dulzaina Street 2, 47012 Valladolid, Spain. Electronic address: calcalma@saludcastillayleon.es. 10. Gastroenterology Unit, Virgen de la Arrixaca University Hospital, Ctra. Madrid-Cartagena s/n, 30120 El Palmar, Murcia, Spain. Electronic address: d.gil.ortega@gmail.com. 11. Metabolopathologies Unit, Miguel Servet University Hospital, P° Isabel La Católica 1-3, 50009 Zaragoza, Spain. Electronic address: igarciaji@salud.aragon.es. 12. Nephrology and Metabolism Unit, Marqués de Valdecilla University Hospital, Valdecilla Avenue s/n, 39008 Santander, Cantabria, Spain. Electronic address: Domingo.gonzalez-lamuno@unican.es. 13. Pediatrics Unit, Nuestra Señora de la Candelaria University Hospital, del Rosario Road 145, 38010 Santa Cruz de Tenerife, Tenerife, Spain. Electronic address: monicarpons@yahoo.es. 14. Paediatric Gastroenterology, Hepatology and Nutrition Unit, Complejo Hospitalario Universitario Insular Materno-Infantil, Universidad de Las Palmas de Gran Canaria, Avda. Marítima del Sur s/n, 35016 Las Palmas de Gran Canaria, Spain. Electronic address: lpena@dcc.ulpgc.es. 15. Metabolic Pathologies and Neuropediatrics Unit, Son Espases University Hospital, Valldemoss Road 79, 07120 Palma de Mallorca, Islas Baleares, Spain. Electronic address: angelesruizgomez@gmail.com. 16. Metabolic Pathologies Unit, Mother and Child Hospital, La VIoleta Street 4, 06010 Badajoz, Spain. Electronic address: davidglezt@gmail.com. 17. Gastroenterology and Pediatric Nutrition Unit, Virgen del Camino Hospital, Irunlarrea Street 4, 31008 Pamplona, Navarra, Spain. Electronic address: felix.sanchez.valverde@cfnavarra.es.
Abstract
BACKGROUND & AIMS: Treating phenylketonuria based upon strict vegetarian diets has occasionally been found to hamper physical development, some patients presenting with growth retardation and malnutrition. In addition, some researchers have reported an association between higher protein intakes and attaining better developmental outcomes, although it remains unclear which protein fraction (natural or synthetic) has the greatest influence on growth. The present study aimed to evaluate anthropometric characteristics and nutrition in a cohort of patients with phenylketonuria and mild-hyperphenylalaninaemia from birth to adulthood. METHODS: We conducted a retrospective longitudinal study comparing anthropometric characteristics (weight, height, body mass index, and growth rate) in our patients and healthy subjects, with the measurements expressed as z-scores. Nutritional issues were also considered. Data were collected every 6 months from birth to 18 years of age. RESULTS: Growth impairment was observed in phenylketonuric patients. Specifically, there were two well-differentiated periods throughout which height fell well below z-score = 0: from birth to two years of age, and on reaching adulthood. We also found height and weight to be positively correlated with phenylalanine intake. No growth retardation was seen in the patients with mild-hyperphenylalaninaemia. CONCLUSIONS: Phenylketonuric patients showed growth impairment in the early stages, with higher phenylalanine intakes being associated with attaining better developmental outcomes in this period. Therefore, prescribing very stringent diets in the early years might predispose phenylketonuric patients to retarded growth later in life, with growth outcomes in adulthood being well below the 50th percentile for healthy subjects.
BACKGROUND & AIMS: Treating phenylketonuria based upon strict vegetarian diets has occasionally been found to hamper physical development, some patients presenting with growth retardation and malnutrition. In addition, some researchers have reported an association between higher protein intakes and attaining better developmental outcomes, although it remains unclear which protein fraction (natural or synthetic) has the greatest influence on growth. The present study aimed to evaluate anthropometric characteristics and nutrition in a cohort of patients with phenylketonuria and mild-hyperphenylalaninaemia from birth to adulthood. METHODS: We conducted a retrospective longitudinal study comparing anthropometric characteristics (weight, height, body mass index, and growth rate) in our patients and healthy subjects, with the measurements expressed as z-scores. Nutritional issues were also considered. Data were collected every 6 months from birth to 18 years of age. RESULTS:Growth impairment was observed in phenylketonuricpatients. Specifically, there were two well-differentiated periods throughout which height fell well below z-score = 0: from birth to two years of age, and on reaching adulthood. We also found height and weight to be positively correlated with phenylalanine intake. No growth retardation was seen in the patients with mild-hyperphenylalaninaemia. CONCLUSIONS:Phenylketonuricpatients showed growth impairment in the early stages, with higher phenylalanine intakes being associated with attaining better developmental outcomes in this period. Therefore, prescribing very stringent diets in the early years might predispose phenylketonuricpatients to retarded growth later in life, with growth outcomes in adulthood being well below the 50th percentile for healthy subjects.
Authors: María L Couce; Ipek Guler; Andrés Anca-Couce; Marta Lojo; Alicia Mirás; Rosaura Leis; Alejandro Pérez-Muñuzuri; José M Fraga; Francisco Gude Journal: Eur J Pediatr Date: 2014-11-01 Impact factor: 3.183
Authors: María L Couce; Paula Sánchez-Pintos; Isidro Vitoria; María-José De Castro; Luís Aldámiz-Echevarría; Patricia Correcher; Ana Fernández-Marmiesse; Iria Roca; Alvaro Hermida; Miguel Martínez-Olmos; Rosaura Leis Journal: Orphanet J Rare Dis Date: 2018-06-27 Impact factor: 4.123
Authors: Berilany Dos Santos Sena; Maria Izabel Siqueira de Andrade; Ana Paula Ferreira da Silva; Keila Fernandes Dourado; Andressa Laís Ferreira Silva Journal: Rev Paul Pediatr Date: 2020-03-09