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Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán

2006, Number 1

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Rev Biomed 2006; 17 (1)

Fetal damage in offspring of heterozygous women for hyperphenylalaninemias

Robaina-Jiménez Z, Barrios-García B, Gutiérrez-García E, Martínez-Rey L, Tamayo-Chang V, Pereira-Pérez ÁN

Language: Spanish
References: 32
Page: 3-9
PDF size: 55.96 Kb.


ABSTRACT

Background. It is possible to find high plasmatic phenyalanine concentration in heterozygous women for the phenylalanine hydroxylase gene, when thereis a phenylalanine intake during pregnancy, and it can lead to disorders in the foetus, specifically in the foetal central nervous system (CNS).
Objective. To determine if there is any association relation between the maternal heterozygotic state for the hyperphenylalanine gene and the appearance of foetal disorders. To perform a clinic characterization of those heterozygotic women's offspring.
Design. 34 women from phenylketonuria and hyperphenylalaninemia families from Villa Clara, Cienfuegos and Holguín were studied. The phenylalanine tolerance test was used to determine the condition of heterozygotic women for any mutation of the gene involved in the phenylalanine metabolism, and to relate it to the existing specific disorders in their offspring.
Results. Mental retardation was the most frequent clinical finding. The offspring of heterozygotic and hyperphenylalaninemia women were both affected. In the children of hyperphenylalaninemic mothers convulsions (associated to mental retardation) as well as mental retardation were the predominant findings, and isolated mental retardation was found predominantly in the offspring of heterozygotic mothers.
Conclusions. There is evidence of association between the CNS disorders and others clinical findings in the offspring and the maternal state of heterozygotic in hyperphenylalaninemia. We recommend carrying our a subsequent study to determine the phenotype-genotype relationship.


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