Maternal phenylketonuria
Vol. 2 No. 1 (2013), Articles
Vol. 2 No. 1 (2013)

Maternal phenylketonuria

Articles
https://doi.org/10.7363/020111
Published 2013-04-03
Kristina Štuikienė
Department of Neonatology, the Hospital of Lithuanian University of Health Sciences, Kaunas
Dalia Stonienė
Department of Neonatology, the Hospital of Lithuanian University of Health Sciences, Kaunas
Jūratė Buinauskienė
Department of Neonatology, the Hospital of Lithuanian University of Health Sciences, Kaunas
Aušrelė Kudrevičienė
Department of Neonatology, the Hospital of Lithuanian University of Health Sciences, Kaunas
Eglė Markūnienė
Department of Neonatology, the Hospital of Lithuanian University of Health Sciences, Kaunas
Rasa Tamelienė
Department of Neonatology, the Hospital of Lithuanian University of Health Sciences, Kaunas
JPNIM Vol. 2 N. 1 - Cover
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Keywords

phenylketonuria
maternal phenylketonuria
microcephaly
psychomotor development

How to Cite

Štuikienė, K., Stonienė, D., Buinauskienė, J., Kudrevičienė, A., Markūnienė, E., & Tamelienė, R. (2013). Maternal phenylketonuria. Journal of Pediatric and Neonatal Individualized Medicine (JPNIM), 2(1), 90-92. https://doi.org/10.7363/020111
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Abstract

Phenylketonuria is a hereditary metabolic disorder inherited in an autosomal recessive pattern. Elevated phenylalanine levels in a pregnant woman with phenylketonuria result in phenylalanine embryopathy. Failure to follow special diets during gestation results in neonatal dysplasia. More favorable outcomes are observed when phenylalanine levels remain within normal ranges prior to conception, or at least when they reach normal levels by the 4th-10th weeks of gestation.

We report the case of a newborn with maternal phenylketonuria.

https://doi.org/10.7363/020111
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