Classical Phenylketonuria Presenting as Maternal PKU Syndrome in the Offspring of an Intellectually Normal Woman [PDF]
JIMD Reports, 2023 Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH). If untreated by dietary restriction of phenylalanine intake, impaired postnatal cognitive development results from ...
Anne H O'Donnell-Luria +2 more
exaly +5 more sources
Successful Management of Two Consecutive Pregnancies With Maternal–Fetal Phenylketonuria: Lessons From Clinical Practice [PDF]
JIMD ReportsPhenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH), leading to the accumulation of phenylalanine (Phe) and an increased risk of developmental disorders.
Per Lundkvist +3 more
doaj +3 more sources
Discontinuation of Pegvaliase Therapy During Maternal PKU Pregnancy and Postnatal Breastfeeding: A Case Report [PDF]
Molecular Genetics and Metabolism Reports, 2020 Cary O Harding, Amy Kritzer, Fran Rohr
exaly +4 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
The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening [PDF]
NutrientsBackground/Objectives: The first 1000 days of life represent a critical window for growth and neurodevelopment, during which nutrition strongly influences brain development and metabolic programming. In phenylketonuria (PKU), dietary management is essential to prevent neurological impairment and later-life risk of non-communicable diseases (NCDs). This
Alberto B Burlina +2 more
exaly +5 more sources
Parenting Styles and Coping Strategies in PKU Early Detected Children [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2021 Phenylketonuria (PKU) requires tight control to prevent neurocognitive impairment but reports show that patients may present mild cognitive defects related to higher impulsivity.
María L. Pardo Campos +3 more
doaj +2 more sources
Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study [PDF]
Orphanet Journal of Rare DiseasesBackground Phenylketonuria (PKU) is a rare inherited metabolic disorder requiring lifelong treatment. While early diagnosis and dietary management have substantially improved neurocognitive outcomes, less is known about how PKU affects sexual life ...
Bożena Mikołuć +7 more
doaj +2 more sources
A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics [PDF]
Orphanet Journal of Rare DiseasesBackground Phenylketonuria is an autosomal recessive disorder characterized by the deficiency of phenylalanine hydroxylase, which converts phenylalanine into tyrosine.
Mehmet Cihan Balci +20 more
doaj +2 more sources
The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies [PDF]
NutrientsBruna Guida +2 more
exaly +2 more sources
How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results From 102 Pregnancies [PDF]
NutrientsSarah Firman +2 more
exaly +2 more sources