The investigation of serum phenylalanine levels based on infant feeding method: a cross-sectional study of children less than two years old with phenylketonuria (PKU)

Villoria JG, Pajares S, López RM, Marin JL, Ribes A. Neonatal screening for inherited metabolic diseases in 2016. Semin Pediatric Neurol. 2016;23(4):257–72.

Article  Google Scholar 

Saudubray J-M, Garcia-Cazorla À. Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management. Pediatr Clin North Am. 2018;65(2):179–208.

Article  PubMed  Google Scholar 

Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Aminoacidopathies: prevalence, etiology, screening, and treatment options. Biochem Genet. 2018;56(1):7–21.

Article  CAS  PubMed  Google Scholar 

MacDonald A, Rocha J, Van Rijn M, Feillet F. Nutrition in phenylketonuria. Mol Genet Metab. 2011;104:S10–8.

Article  CAS  PubMed  Google Scholar 

Pourfarzam M, Zadhoush F. Newborn screening for inherited metabolic disorders; news and views. J Res Med Sci. 2013;18(9):801–8.

PubMed Central  Google Scholar 

Alfadhel M, Al Othaim A, Al Saif S, Al Mutairi F, Alsayed M, Rahbeeni Z, et al. Expanded newborn screening program in Saudi Arabia: incidence of screened disorders. J Paediatr Child Health. 2017;53(6):585–91.

Article  PubMed  Google Scholar 

Yamaguchi A, Mizushima Y, Fukushi M, Shimizu Y, Kikuchi Y, Takasugi N. Microassay system for newborn screening for phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia and galactosemia with use of a fluorometric microplate reader. Screening. 1992;1(1):49–62.

Article  CAS  Google Scholar 

Elvers LH, Diependaal GAM, Blonk HJ, Loeber JG. Phenylketonuria screening using the Quantase phenylalanine kit in combination with a microfilter system and the dye Tartrazine. Screening. 1995;3(4):209–23.

Article  CAS  Google Scholar 

Contreras J, Alonso E, Fuentes L. HPLC for confirmatory diagnosis and biochemical monitoring of Cuban patients with hyperphenylalaninemias. MEDICC Rev. 2015;17:23–8.

Article  PubMed  Google Scholar 

Schulze A, Kohlmueller D, Mayatepek E. Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates. Clin Chim Acta. 1999;283:15–20.

Article  CAS  PubMed  Google Scholar 

Shirzadeh T, Saeidian AH, Bagherian H, Salehpour S, Setoodeh A, Alaei MR, et al. Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population. J Inherit Metab Dis. 2018;41(6):1159–67.

Article  PubMed  Google Scholar 

Aghasi P, Setoodeh A, Sayarifard A, Rashidiyan M, Sayarifard F, Rabbani A, et al. Intellectual and developmental status in children with hyperphenylalaninemia and PKU who were screened in a national program. Iran J Pediatr. 2015;25(6):e3033.

Habib A, Fallahzadeh MH, Kazeroni HR, Ganjkarimi AH. Incidence of phenylketonuria in Southern Iran. Iran J Med Sci. 2010;35(2):137–9.

Google Scholar 

Waisbren SE, Noel K, Fahrbach K, Cella C, Frame D, Dorenbaum A, Levy H. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab. 2007;92(1):63–70.

Article  CAS  PubMed  Google Scholar 

de Groot MJ, Hoeksma M, Blau N, Reijngoud DJ, van Spronsen FJ. Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Mol Genet Metab. 2010;99suppl1:S86–9.

Boyer SW, Barclay LJ, Burrage LC. Inherited metabolic disorders. Nutr Clin Pract. 2015;30(4):502–10.

Article  PubMed  PubMed Central  Google Scholar 

Breilyn MS, Wasserstein MP. Established and emerging treatments for patients with inborn errors of metabolism. NeoReviews. 2020;21(10):e699–707.

Article  PubMed  Google Scholar 

Vallian S, Moeini H. A quantitative bacterial micro-assay for rapid detection of serum phenylalanine in dry blood-spots: application in phenylketonuria screening. J Appl Genet. 2006;47:79–83.

Article  PubMed  Google Scholar 

Lukacs Z, Santer R. Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders. Mol Nutr Food Res. 2006;50(4–5):443–50.

Article  CAS  PubMed  Google Scholar 

Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, et al. Diagnosis and management of glutaric aciduria type I – revised recommendations. J Inherit Metab Dis. 2011;34(3):677.

Article  PubMed  PubMed Central  Google Scholar 

Frazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, Splett PL, Stembridge A, Singh RH. Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Mol Genet Metab. 2014;112(3):210–7.

Article  CAS  PubMed  Google Scholar 

Singh RH, Cunningham AC, Mofidi S, Douglas TD, Frazier DM, Hook DG, Jeffers L, McCune H, Moseley KD, Ogata B, et al. Updated, web-based nutrition management guideline for PKU: an evidence and consensus based approach. Mol Genet Metab. 2016;118(2):72–83.

Article  CAS  PubMed  Google Scholar 

van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet Journal of Rare Disease. 2017;12(1):162–162.

Article  Google Scholar 

Jurecki E, Ueda K, Frazier D, Rohr F, Thompson A, Hussa C, Obernolte L, Reineking B, Roberts AM, Yannicelli S, et al. Nutrition management guideline for propionic acidemia: an evidence- and consensus-based approach. Mol Genet Metab. 2019;126(4):341–54.

Article  CAS  PubMed  Google Scholar 

Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo PS, Santer R, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7(1):32.

Article  PubMed  PubMed Central  Google Scholar 

Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, et al. Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): an evidence- and consensus-based approach. Mol Genet Metab. 2020;131(1):23–37.

Article  PubMed  Google Scholar 

Kose E, Aksoy B, Kuyum P, Tuncer N, Arslan N, Ozturk Y. The effects of breastfeeding in infants with phenylketonuria. J Pediatr Nurs. 2018;38:27–32.

Article  PubMed  Google Scholar 

Blau N, Van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010;376(9750):1417–27.

Article  CAS  PubMed  Google Scholar 

Albrecht J, Garbade SF, Burgard P. Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis. Neurosci Biobehav Rev. 2009;33(3):414–21.

Article  CAS  PubMed  Google Scholar 

Ernest AE. Guide to breast feeding the infant with PKU. 1980.

Google Scholar 

Motzfeldt K, Lilje R, Nylander G. Breastfeeding in phenylketonuria. Acta Paediatr. 1999;88(s432):25–7.

Article  CAS  Google Scholar 

Banta-Wright SA, Shelton KC, Lowe ND, Knafl KA, Houck GM. Breast-feeding success among infants with phenylketonuria. J Pediatr Nurs. 2012;27(4):319–27.

Article  PubMed  Google Scholar 

Kanufre VC, Starling AL, Leão E, Aguiar MJ, Santos JS, Soares RD, Silveira AM. Breastfeeding in the treatment of children with phenylketonuria. J Pediatr. 2007;83:447–52.

Google Scholar 

Ea VC, Ea VM, Colombo M, Mabe P, Ma MJ, De la Parra CA, Gc AV, Raimann E. Phenylketonuria diagnosed during the neonatal period and breast feeding. Rev Méd Chile. 2003;131:1280–7.

Google Scholar 

Demirkol M, Huner G, Kuru N, Donmez S, Baykal T, Seckin Y. Feasibility of breast-feeding in inborn errors of metabolism: experience in phenylketonuria. Ann Nutr Metab. 2001;45(Suppl 1):497–8.

Google Scholar 

von Elm E, Altman DG, Egger M, Pocock SJ, Gøtzsche PC, Vandenbroucke JP. Initiative ftS: the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies. Epidemiology. 2007;18(6):800–4.

Article  Google Scholar 

Heydari S, Fatemeh E, Amini M. Infants’ growth charts in Jahrom, Iran. Iran J Pediatr. 2009;25–34.

Amirhakimi GH. A longitudinal growth study from birth to maturity for weight, height and head circumference of normal Iranian children compared with western norms: a standard for growth of Iranian children. Iran J Med Sci. 2015;28(1):9–16.

Google Scholar 

Yannicelli S. Breastfeeding the infant with phenylketonuria: a practical approach. Top Clin Nutr. 1987;2(3):25–30.

Article  Google Scholar 

McCabe L, Ernest AE, Neifert MR, Yannicelli S, Nord AM, Garry PJ, McCabe ER, et al. The management of breast feeding among infants with phenylketonuria. J Inherit Metab Dis. 1989;12(4): 467–74.

McCabe ER, McCabe L. Issues in the dietary management of phenylketonuria: breast-feeding and trace-metal nutriture. Ann N Y Acad Sci. 1986;477:215–22.

Huner G, Demirkol M. Breast-feeding and phenylketonuria. Istanbul: Turkish Society for PKU; 1996.

Google Scholar 

van Rijn M, Bekhof J, Dijkstra T, Smit PGPA, Moddermam P, van Spronsen FJ. A different approach to breast-feeding of the infant with phenylketonuria. Eur J Pediatr. 2003;162(5):323–6.

Article  PubMed  Google Scholar 

Jurecki ER, Cederbaum S, Kopesky J, Perry K, Rohr F, Sanchez-Valle A, et al. Adherence to clinic recommendations among patients with phenylketonuria in the United States. Mol Genet Metab. 2017;120(3):190–7.

van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, et al. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol. 2017;5(9):743–56.

Jordan S, Bromley R, Damase-Michel C, Given J, Komninou S, Loane M, et al. Breastfeeding, pregnancy, medicines, neurodevelopment, and population databases: the information desert. Int Breastfeed J. 2022;17:55.

Article  PubMed  PubMed Central  Google Scholar 

留言 (0)

沒有登入
gif