Maternal phenylketonuria

Autor: Kristina Štuikienė, Dalia Stonienė, Jūratė Buinauskienė, Aušrelė Kudrevičienė, Eglė Markūnienė, Rasa Tamelienė
Jazyk: English<br />Italian
Rok vydání: 2013
Předmět:
Zdroj: Journal of Pediatric and Neonatal Individualized Medicine, Vol 2, Iss 1, Pp 90-92 (2013)
Druh dokumentu: article
ISSN: 2281-0692
DOI: 10.7363/020111
Popis: 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.
Databáze: Directory of Open Access Journals