Maternal phenylketonuria [PDF]
Journal of Pediatric and Neonatal Individualized Medicine, 2013 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.
Kristina Štuikienė +5 more
doaj +5 more sources
Prevention of maternal phenylketonuria. Dietary management in the preconception period and during pregnancy [PDF]
Pediatria i Medycyna Rodzinna, 2018 Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal recessive disease affecting metabolism. This diet-dependent condition is found in Poland in 1:8,000 live births.
Joanna Żółkowska +2 more
doaj +2 more sources
Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Insufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Phe) limited diet in adults with PKU
Carmen Rohde +15 more
doaj +2 more sources
First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child [PDF]
Molecular Genetics and Metabolism Reports, 2019 Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese case of maternal PKU treated with SD.
Hiromi Nyuzuki +3 more
doaj +2 more sources
An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria [PDF]
BMC Pediatrics, 2005 Background Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus.
Weigel Corina +6 more
doaj +3 more sources
Fenilcetonúria materna: relato de caso Maternal phenylketonuria: a case report [PDF]
Revista Brasileira de Ginecologia e Obstetrícia, 2004 A fenilcetonúria materna é uma aminoacidopatia caracterizada por níveis elevados de fenilalanina plasmática na gestante, o que pode provocar anormalidades no desenvolvimento do feto, condição que se denomina síndrome de fenilcetonúria materna.
Ernesto Antonio Figueiró-Filho +5 more
doaj +2 more sources
Molecular Genetics and Metabolism Reports, 2023 Phenylketonuria is an inborn error of phenylalanine metabolism caused by a phenylalanine hydroxylase deficiency. To prevent the occurrence of neurological symptoms and maternal complications resulting from phenylketonuria, patients must adhere to a ...
Yoichi Wada +5 more
doaj +1 more source
New challenges in management of phenylketonuria in pregnancy: a case report
Journal of Medical Case Reports, 2023 Background Phenylketonuria (PKU) is an autosomal recessive disease that belongs to a group of disorders resulting from inborn errors of protein metabolism. It was the first disease included in neonatal screening.
Beatriz Ugalde-Abiega +4 more
doaj +1 more source
Reinstitution of pegvaliase therapy during lactation
Molecular Genetics and Metabolism Reports, 2022 Pegvaliase, an injectable form of phenylalanine ammonia lyase, is an enzyme substitution therapy for adults with phenylketonuria (PKU). Experience with pegvaliase during lactation is scarce.
Frances Rohr +5 more
doaj +1 more source
Congenital Malformation and Maternal Phenylketonuria
Pediatric Neurology Briefs, 1987 Infants born to women with PKU are frequently mentally retarded, microcephalic, of low birthweight, and have various malformations.
J Gordon Millichap
doaj +1 more source