title: Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients.
abstract: OBJECTIVE
  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.
authors.affiliation: Division of Metabolism, Cruces University Hospital, Plaza de Cruces s/n, 48903 Barakaldo, Bizkaia, Spain. Electronic address: luisjose.aldamiz-echevarazuara@osakidetza.net.
authors.forename: Luis
authors.initials: L
authors.lastname: Aldámiz-Echevarría
authors.affiliation: Metabolic Disorders, Dietetics and Nutrition Unit, Virgen del Rocío University Hospital, Manuel Siurot Avenue, 41013 Sevilla, Spain. Electronic address: mbuenod@yahoo.es.
authors.forename: María A
authors.initials: MA
authors.lastname: Bueno
authors.affiliation: 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.
authors.forename: María L
authors.initials: ML
authors.lastname: Couce
authors.affiliation: Division of Metabolism, Cruces University Hospital, Plaza de Cruces s/n, 48903 Barakaldo, Bizkaia, Spain. Electronic address: laboratorio.metabolismo.cruces@osakidetza.net.
authors.forename: Sergio
authors.initials: S
authors.lastname: Lage
authors.affiliation: Nutrition and Metabolopathologies Unit, La Fe University Hospital, Bulevar Sur s/n, 46026 Valencia, Spain. Electronic address: dalmau_jai@gva.es.
authors.forename: Jaime
authors.initials: J
authors.lastname: Dalmau
authors.affiliation: Nutrition and Metabolopathologies Unit, La Fe University Hospital, Bulevar Sur s/n, 46026 Valencia, Spain. Electronic address: vitoria_isi@gva.es.
authors.forename: Isidro
authors.initials: I
authors.lastname: Vitoria
authors.affiliation: Division of Metabolism, Cruces University Hospital, Plaza de Cruces s/n, 48903 Barakaldo, Bizkaia, Spain. Electronic address: fernando.andradelodeiro@osakidetza.net.
authors.forename: Fernando
authors.initials: F
authors.lastname: Andrade
authors.affiliation: Gastroenterology, Hepatology and Child Nutrition Unit, Carlos Haya University Hospital, Arroyo de los Ángeles Avenue, 29011 Málaga, Spain. Electronic address: javierblascoalonso@yahoo.es.
authors.forename: Javier
authors.initials: J
authors.lastname: Blasco
authors.affiliation: Pediatrics Unit, Río Hortega University Hospital, Dulzaina Street 2, 47012 Valladolid, Spain. Electronic address: calcalma@saludcastillayleon.es.
authors.forename: Carlos
authors.initials: C
authors.lastname: Alcalde
authors.affiliation: 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.
authors.forename: David
authors.initials: D
authors.lastname: Gil
authors.affiliation: Metabolopathologies Unit, Miguel Servet University Hospital, P° Isabel La Católica 1-3, 50009 Zaragoza, Spain. Electronic address: igarciaji@salud.aragon.es.
authors.forename: María C
authors.initials: MC
authors.lastname: García
authors.affiliation: Nephrology and Metabolism Unit, Marqués de Valdecilla University Hospital, Valdecilla Avenue s/n, 39008 Santander, Cantabria, Spain. Electronic address: Domingo.gonzalez-lamuno@unican.es.
authors.forename: Domingo
authors.initials: D
authors.lastname: González-Lamuño
authors.affiliation: 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.
authors.forename: Mónica
authors.initials: M
authors.lastname: Ruiz
authors.affiliation: 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.
authors.forename: Luis
authors.initials: L
authors.lastname: Peña-Quintana
authors.affiliation: Metabolic Pathologies and Neuropediatrics Unit, Son Espases University Hospital, Valldemoss Road 79, 07120 Palma de Mallorca, Islas Baleares, Spain. Electronic address: angelesruizgomez@gmail.com.
authors.forename: María A
authors.initials: MA
authors.lastname: Ruiz
authors.affiliation: Metabolic Pathologies Unit, Mother and Child Hospital, La VIoleta Street 4, 06010 Badajoz, Spain. Electronic address: davidglezt@gmail.com.
authors.forename: David
authors.initials: D
authors.lastname: González
authors.affiliation: Gastroenterology and Pediatric Nutrition Unit, Virgen del Camino Hospital, Irunlarrea Street 4, 31008 Pamplona, Navarra, Spain. Electronic address: felix.sanchez.valverde@cfnavarra.es.
authors.forename: Felix
authors.initials: F
authors.lastname: Sánchez-Valverde
mesh_terms: D000293:Adolescent; D000328:Adult; D015992:Body Mass Index; D001835:Body Weight; D002648:Child; D002675:Child, Preschool; D004032:Diet; D005260:Female; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D009747:Nutritional Physiological Phenomena; D009752:Nutritional Status; D009765:Obesity / Q000453:epidemiology; D050177:Overweight / Q000453:epidemiology; D010649:Phenylalanine / Q000008:administration & dosage* / Q000172:deficiency*; D010661:Phenylketonurias / Q000188:drug therapy*; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D010649:Phenylalanine
keywords: Anthropometrics; Growth; Nutrition; PAH-deficient; Phenylketonuria