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Revista Cubana de Obstetricia y Ginecología

On-line version ISSN 1561-3062


ALVAREZ FUMERO, Roberto. Maternal phenylketonuria syndrome. Rev Cubana Obstet Ginecol [online]. 2003, vol.29, n.3, pp. 0-0. ISSN 1561-3062.

The maternal phenylketonuria syndrome is an embriopathy occurring in children of phenylalaninemic mothers that have not recieved an adequate diet before and during pregnancy. This article deals with the semiology, the physiopathology of this syndrome and the possible mechanisms of the intrauterine damage it causes. Women at risk are defined and the conduct to be followed with them to prevent the occurrence of embriopathy due to maternal phenylketonuria in the offspring is explained. Emphasis is made on the strict metabolic control since the future mother plans her gestation and during pregnancy as the sole efficient therapeutic option. The protagonist role of primary health care in the prevention of embryopathy due to maternal phenylketonuria is reaffirmed. Those women suffering from phenylketonuria on reaching the reproductive age should be classified as preconceptional risk and receive a wide information allowing them to recognize the probabilities they have to develop an embryopathy, to plan their pregnancy adequately and to understand the need to be on a restricted diet. The benign hyperphenylalaninemic patients should be actively sought so that, previous classification, they receive biochemical and neurodevelopmental follow-up, making emphasis on women at reproductive age.

Keywords : PHENYLKETONURIA, MATERNAL [diet therapy]; PHENYLKETONURIA, MATERNAL [prevention & control]; MOTHER NUTRITION; FETAL DISEASES [prevention & control]; PREGNANCY COMPLICATIONS [prevention & control]; RISK FACTORS.

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