Galactosemia screening in newborns
DOI:
https://doi.org/10.35381/s.v.v6i3.2265Keywords:
Neonatal screening, Galactose, Galactosemia. (Source, DeCS).Abstract
Objective: To describe the screening methods and their diagnostic utility in classic galactosemia in newborns. Method: Descriptive and documentary bibliographic review, using a total of 27 articles from databases of: PubMed; Medline, Elsevier, Scielo, Medigraphic and Google Scholar. Results and conclusions: It was possible to show that detection by the total titration test of galactose-1-phosphate in erythrocytes, concentration of galactose in blood and activity of the GALT enzyme of erythrocytes for galactosemia in newborns allows to detect, in a timely manner classic galactosemia in neonates and helps minimize morbidity and mortality rates in the affected population, therefore, it is important that health authorities should consider neonatal screening in the population at risk of classic galactosemia.
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References
Welling L, Bernstein L, Berry G. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017;40(2):171–6.
Lak R, Yazdizadeh B, Davari M. Newborn screening for galactosaemia. Cochrane Database Syst Rev. 2017;12(12).
Kotb M, Mansour L, Shamma R. Screening for galactosemia: is there a place for it? Int J Gen Med. 2019;23(12):193–205.
Fridovich-Keil J, Gambello M, Singh RH. Duarte Variant Galactosemia. GeneReviews. 2020;4.
Fridovich-Keil J, Bean L, He M. Epimerase Deficiency Galactosemia. Gene Rev. 2021;25.
Hatam N, Askarian M, Shirvani S. Neonatal Screening: Cost-utility Analysis for Galactosemia. Iran J Public Heal. 2017;47(1):112–9.
Buckley M, Aguilar L, Lainez R. Neonatal screening program for five conditions in Honduras. J Community Genet. 2021;12(3):389–95.
Delnoy B, Coelho A. Current and Future Treatments for Classic Galactosemia. J Pers Med. 2021;11(2).
Abidin Z, Treacy E. Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia. Int J Mol Sci. 2019;20(20).
Thakur M, Feldman G, Puscheck E. Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities. J Assist Reprod Genet. 2018;35(1):3-1ç6.
Anderson S. GALT Deficiency Galactosemia. MCN Am J Matern Child Nurs. 2018;43(1):44–51.
Cerone J, Rios A. Galactosemia. [Galactosemia]. Pediatr Rev. 2019;40(1):24–7.
Kisa P, Kose M, Unal O. Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey. J Pediatr Endocrinol Metab. 2019;32(7):675–81.
Welsink-Karssies M, Oostrom K, Hermans M. Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities. Orphanet J Rare Dis. 2020;15(1).
Yuzyuk T, Balakrishnan B, Schwarz E. Effect of genotype on galactose-1-phosphate in classic galactosemia patients. Mol Genet Metab. 2018;125(3):258–65.
Hernández, R., Fernández, C. & Batista, P. (2014). Metodología de la investigación. [Investigation methodolog ]. (6ª ed.). México: McGraw- HILL Interamericana., S.A.
Porta F, Pagliardini S, Pagliardini V. Newborn screening for galactosemia: a 30-year single center experience. World J Pediatr. 2015;11(1):160–164.
Kotb M, Mansour L, Shamma R. Screening for galactosemia: is there a place for it? Int J Gen Med. 2019;12(1):193–205.
Cangemi G, Barco S, Barbagallo L. Erythrocyte Galactose-1-phosphate measurement by GC-MS in the monitoring of classical galactosemia. Scand J Clin Lab Investig. 2012;72(1):29–33.
Berry G. Classic Galactosemia and Clinical Variant Galactosemia. GeneReviews. 2017;4.
Kemper E, Boelen A, Bosch A. Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme. JIMD Rep. 2017;32:1–6.
Fortuna-Pérez M, Díaz-Rancaño F, Pérez-Ferrán C. Galactosemia clásica (a propósito de un caso). Cienc y Salud. 2018;2(1):9–13.
Welsink-Karssies M, Ferdinandusse S, Geurtsen G. Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers. Brain Commun. 2020;2(1).
López-Uriarte G, Ortiz-Figueroa A, Calvo-Anguiano G. Mayor frecuencia de variantes génicas en el gen de la galactocinasa en una serie de casos del norte de México con galactosemia. Rev Mex pediatría. 2021;88(4).
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