The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population
Transient neonatal tyrosinemia (TNT) is a form of hypertyrosinemia produced by the immaturity of 4-hydroxyphenylpyruvate dioxygenase (4-HPPD), a high intake of phenylalanine and tyrosine, and a relative ascorbic acid deficiency. Our objectives are to determine the incidence of TNT in Mexican newborn...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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SciELO
2017-11-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Online Access: | https://doi.org/10.1177/2326409817744230 |
| _version_ | 1819041654394322944 |
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| author | Alexandra V. Zea-Rey MD Héctor Cruz-Camino BSc Diana L. Vazquez-Cantu BSc Valeria M. Gutiérrez-García BSc Jesús Santos-Guzmán PhD Consuelo Cantú-Reyna MD |
| author_facet | Alexandra V. Zea-Rey MD Héctor Cruz-Camino BSc Diana L. Vazquez-Cantu BSc Valeria M. Gutiérrez-García BSc Jesús Santos-Guzmán PhD Consuelo Cantú-Reyna MD |
| author_sort | Alexandra V. Zea-Rey MD |
| collection | DOAJ |
| description | Transient neonatal tyrosinemia (TNT) is a form of hypertyrosinemia produced by the immaturity of 4-hydroxyphenylpyruvate dioxygenase (4-HPPD), a high intake of phenylalanine and tyrosine, and a relative ascorbic acid deficiency. Our objectives are to determine the incidence of TNT in Mexican newborns and to correlate it based on their sex, gestational age, and weight for gestational age to determine whether these are risk factors that predict the development of TNT. A cross-sectional descriptive study was conducted from January 2006 to August 2017. We analyzed 175 976 of newborn screening reports and found that the overall incidence of TNT was 1 (0.29%) in 342 newborns. It is more prevalent in preterm infants and in small for gestational age newborns (0.35%).The TNT incidence was determined in this Mexican population, and it was established as the most frequently occurring amino acid defect. We propose that pediatricians intentionally search for this pathology to offer patients access to adequate and timely treatment. |
| first_indexed | 2024-12-21T09:28:26Z |
| format | Article |
| id | doaj.art-50187b98bcd54f2a800f3bb6c42d2145 |
| institution | Directory Open Access Journal |
| issn | 2326-4594 |
| language | English |
| last_indexed | 2024-12-21T09:28:26Z |
| publishDate | 2017-11-01 |
| publisher | SciELO |
| record_format | Article |
| series | Journal of Inborn Errors of Metabolism and Screening |
| spelling | doaj.art-50187b98bcd54f2a800f3bb6c42d21452022-12-21T19:08:49ZengSciELOJournal of Inborn Errors of Metabolism and Screening2326-45942017-11-01510.1177/2326409817744230The Incidence of Transient Neonatal Tyrosinemia Within a Mexican PopulationAlexandra V. Zea-Rey MD0Héctor Cruz-Camino BSc1Diana L. Vazquez-Cantu BSc2Valeria M. Gutiérrez-García BSc3Jesús Santos-Guzmán PhD4Consuelo Cantú-Reyna MD5 Genomi-k S.A.P.I. de C.V, Monterrey, Nuevo Leon, Mexico Tecnologico de Monterrey, Escuela de Biotecnología y Ciencias de la Salud Monterrey, Nuevo Leon, Mexico Genomi-k S.A.P.I. de C.V, Monterrey, Nuevo Leon, Mexico Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico Tecnologico de Monterrey, Escuela de Biotecnología y Ciencias de la Salud Monterrey, Nuevo Leon, MexicoTransient neonatal tyrosinemia (TNT) is a form of hypertyrosinemia produced by the immaturity of 4-hydroxyphenylpyruvate dioxygenase (4-HPPD), a high intake of phenylalanine and tyrosine, and a relative ascorbic acid deficiency. Our objectives are to determine the incidence of TNT in Mexican newborns and to correlate it based on their sex, gestational age, and weight for gestational age to determine whether these are risk factors that predict the development of TNT. A cross-sectional descriptive study was conducted from January 2006 to August 2017. We analyzed 175 976 of newborn screening reports and found that the overall incidence of TNT was 1 (0.29%) in 342 newborns. It is more prevalent in preterm infants and in small for gestational age newborns (0.35%).The TNT incidence was determined in this Mexican population, and it was established as the most frequently occurring amino acid defect. We propose that pediatricians intentionally search for this pathology to offer patients access to adequate and timely treatment.https://doi.org/10.1177/2326409817744230 |
| spellingShingle | Alexandra V. Zea-Rey MD Héctor Cruz-Camino BSc Diana L. Vazquez-Cantu BSc Valeria M. Gutiérrez-García BSc Jesús Santos-Guzmán PhD Consuelo Cantú-Reyna MD The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population Journal of Inborn Errors of Metabolism and Screening |
| title | The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population |
| title_full | The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population |
| title_fullStr | The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population |
| title_full_unstemmed | The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population |
| title_short | The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population |
| title_sort | incidence of transient neonatal tyrosinemia within a mexican population |
| url | https://doi.org/10.1177/2326409817744230 |
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