el estado heterocigótico para mutaciones del gen fenilalanina hidroxilasa como factor de riesgo fetal the heterocygotic state for mutations of the phenylalanine hydroxylase gene as a fetal risk factor

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ID: 220644
2005
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Abstract
Las hiperfenilalaninemias son errores congénitos del metabolismo muy heterogéneos, tanto genética como clínicamente. Actualmente se conocen más de 450 mutaciones en el gen de la fenilalanina hidroxilasa y se definen como la elevación de los niveles de fenilalanina por encima de 120 µmol / L (2 mg / dL). La descendencia de las mujeres con hiperfenilalaninemias puede afectarse debido a la elevación de fenilalanina dentro del útero por el gradiente transplacentario a favor del feto. En nuestra investigación se realizó un estudio por prueba de tolerancia a la fenilalanina en 37 madres de niños con retraso mental inespecífico, y se encontró que 5 eran heterocigóticas y 2 homocigóticas para la mutación del gen de la fenilalanina hidroxilasa, lo que indica una frecuencia mayor que en la población general. En nuestra muestra se encontró relación entre el estado de heterocigosis de las hiperfenilalaninemias y el daño fetal.
Hyperphenylalaninemias are very heterogenous congenital errors of metabolism, both genetical and clinically. At present, more than 450 mutations are known in the phenylalanine hydroxylase gene and they are defined as the elevation of the phenylalanine levels above 120 µmol/L (2 mg/dL). The offspring of women with hyperphenylalaninemias may be affected due to the elevation of phenylalanine within the uterus by the transplacental gradient in favor of the feto. As part of our research, a study was conducted by the test of tolerance to phenylalanine in 37 mothers of children with unspecific mental retardation. It was found that 5 were heterocygotic and 2 homocygotic for the mutation of phenylalanine hydroxylase gene, which indicates a frequency higher than that of the general population. In our sample, it was observed a relation between the heterocygosis state of hyperphenylalaninemias and fetal damage.
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Authors Enna Gutiérrez García, Bárbara Barrios García, Gretsy Arcas Ermeso
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Journal studies in the history of gardens and designed landscapes
Year 2005
DOI
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URL
http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75312005000100004
Keywords
education (general) mutation medicinemedicine (general)

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