title: Vitamin and mineral status in patients with hyperphenylalaninemia.
abstract: Natural sources of protein and some vitamins and minerals are limited in phenylketonuria (PKU) treated patients, who should receive optimal supplementation although this is not yet fully established. We conducted a cross-sectional observational multicenter study including 156 patients with hyperphenylalaninemia. Patients were stratified by age, phenotype, disease detection and type of treatment. Annual median blood phenylalanine (Phe) levels, Phe tolerance, anthropometric measurements, and biochemical parameters (total protein, prealbumin, electrolytes, selenium, zinc, B12, folic acid, ferritin, 25-OH vitamin D) were collected in all patients. 81.4% of patients had biochemical markers out of recommended range but no clinical symptoms. Total protein, calcium, phosphorus, B12, ferritin, and zinc levels were normal in most patients. Prealbumin was reduced in 34.6% of patients (74% with PKU phenotype and 94% below 18 years old), showing almost all (96.3%) an adequate adherence to diet. Selenium was diminished in 25% of patients (95% with PKU phenotype) and also 25-OHD in 14%. Surprisingly, folic acid levels were increased in 39% of patients, 66% with classic PKU. Phosphorus and B12 levels were found diminished in patients with low adherence to diet. Patients under BH4 therapy only showed significant lower levels of B12. This study shows a high percentage of prealbumin and selenium deficiencies as well as an increased level of folic acid in PKU treated patients, which should lead us to assess an adjustment for standards supplements formulated milks.
authors.affiliation: Unit of Gastroenterology and Nutrition, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Travesía da Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain.
authors.forename: Vanesa
authors.initials: V
authors.lastname: Crujeiras
authors.affiliation: Unit of Metabolism, Department of Pediatrics, Hospital de Cruces, Group of Metabolism, Biocruces Health Research Institute, CIBERER, Plaza de Cruces s/n, 48903 Barakaldo, Vizcaya, Spain. Electronic address: luisjose.aldamiz-echevarazuara@osakidetza.net.
authors.forename: Luis
authors.initials: L
authors.lastname: Aldámiz-Echevarría
authors.affiliation: Unit of Metabolopathies, Hospital Universitario la Fe, Bulevarsur s/n, 46021 Valencia, Spain. Electronic address: dalmau_jai@gva.es.
authors.forename: Jaime
authors.initials: J
authors.lastname: Dalmau
authors.affiliation: Unit of Metabolopathies, Hospital Universitario la Fe, Bulevarsur s/n, 46021 Valencia, Spain. Electronic address: Vitoria_isi@gva.es.
authors.forename: Isidro
authors.initials: I
authors.lastname: Vitoria
authors.affiliation: Unit of Metabolism, Department of Pediatrics, Hospital de Cruces, Group of Metabolism, Biocruces Health Research Institute, CIBERER, Plaza de Cruces s/n, 48903 Barakaldo, Vizcaya, Spain. Electronic address: fernando.andradelodeiro@osakidetza.net.
authors.forename: Fernando
authors.initials: F
authors.lastname: Andrade
authors.affiliation: Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Travesía da Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address: iria.roca.otero@gmail.com.
authors.forename: Iria
authors.initials: I
authors.lastname: Roca
authors.affiliation: Unit of Gastroenterology and Nutrition, Department of Pediatrics, Hospital Clinico Universitario de Santiago, IDIS, Travesía da Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address: mariarosaura.leis@usc.es.
authors.forename: Rosaura
authors.initials: R
authors.lastname: Leis
authors.affiliation: Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clinico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Travesía da Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address: amarmiesse@gmail.com.
authors.forename: Ana
authors.initials: A
authors.lastname: Fernandez-Marmiesse
authors.affiliation: Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address: maria.luz.couce.pico@sergas.es.
authors.forename: María L
authors.initials: ML
authors.lastname: Couce
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004032:Diet; D019587:Dietary Supplements; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008903:Minerals / Q000378:metabolism*; D010661:Phenylketonurias / Q000378:metabolism*; D011228:Prealbumin / Q000378:metabolism; D014815:Vitamins / Q000378:metabolism*; D055815:Young Adult
chemical_list: D008903:Minerals; D011228:Prealbumin; D014815:Vitamins
keywords: Folic acid; Nutrition; Phenylketonuria; Selenium; Tetrahydrobiopterin