Results 1 to 10 of about 1,727,355 (121)

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 ...
Malak Ali Alghamdi, Anne O'Donnell‐Luria, Naif A. Almontashiri, Wajeih Y. AlAali, Hebatallah H. Ali, Harvey L. Levy   +5 more
doaj   +3 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, Alena Gerlinde Thiele, Christoph Baerwald, Rudolf Georg Ascherl, Dinah Lier, Ulrike Och, Christina Heller, Alexandra Jung, Kathrin Schönherr, Monika Joerg-Streller, Simone Luttat, Sabine Matzgen, Tina Winkler, Stefanie Rosenbaum-Fabian, Oxana Joos, Skadi Beblo   +15 more
doaj   +3 more sources

Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study [PDF]

Orphanet Journal of Rare Diseases
Background 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, Dariusz Walkowiak, Dorota Korycińska – Chaaban, Łukasz Kałużny, Maria Giżewska, Ewa Starostecka, Agata Lange, Jarosław Walkowiak   +7 more
doaj   +3 more sources

The Prevention of Maternal Phenylketonuria (PKU) Syndrome: The Development and Evaluation of a Specific Training Program. [PDF]

Nutrients
Background: Maternal phenylketonuria (PKU) syndrome, leading to severe psychomotor retardation, microcephaly, cardiac defects and undergrowth, affects the unborn children of mothers with PKU with insufficient metabolic control during pregnancy.
Rohde C, Thiele AG, Tomm A, Lier D, Eschrich K, Baerwald C, Beblo S.   +6 more
europepmc   +3 more sources

Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria [PDF]

Molecular Genetics and Metabolism Reports, 2022
Classical phenylketonuria (PKU) presents a unique challenge for women of child-bearing age. In the context of pregnancy, poorly controlled hyperphenylalaninemia can result in a devastating constellation of outcomes for the baby referred to as the ...
Vikram K. Raghu, Steven F. Dobrowolski, Rakesh Sindhi, Kevin A. Strauss, George V. Mazariegos, Jerry Vockley, Kyle Soltys   +6 more
doaj   +2 more sources

Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome. [PDF]

JIMD Rep, 2012
Schwoerer JA, Obernolte L, Van Calcar S, Heighway S, Bankowski H, Williams P, Rice G.   +6 more
europepmc   +2 more sources

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening. [PDF]

Nutrients
Verduci E, Tosi M, Zuvadelli J, Giorda S, Biasucci G, Leuzzi V, Spada M, Burlina A, Dionisi Vici C, PKU Expert Group.   +9 more
europepmc   +2 more sources

Selected Abstracts of the 19th International Workshop on Neonatology and Pediatrics; Cagliari (Italy); October 18-21, 2023

Journal of Pediatric and Neonatal Individualized Medicine, 2023
Selected Abstracts of the 19th International Workshop on Neonatology and Pediatrics; Cagliari (Italy); October 18th-21st, 2023 FROM WOMB TO AGING, FROM MEDICAL HISTORY TO ARTIFICIAL INTELLIGENCE   The Workshop has been organized with the patronage of
--- Various Authors
doaj   +1 more source

The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies. [PDF]

Nutrients
Gautiero C, Scala I, Esposito G, Coppola MR, Cacciapuoti N, Fisco M, Ruoppolo M, Strisciuglio P, Parenti G, Guida B.   +9 more
europepmc   +2 more sources

Reproductive experience of women living with phenylketonuria

Molecular Genetics and Metabolism Reports, 2018
Introduction: Many women with PKU are well-informed about the risks of maternal PKU but there are several barriers to achieving satisfactory metabolic control before and during pregnancy.
Suzanne Ford, Mike O'Driscoll, Anita MacDonald   +2 more
doaj   +1 more source