Results 1 to 10 of about 528,073 (147)

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, Taro Yamazaki, Megumi Saito, Akira Ohtake   +3 more
doaj   +4 more sources

Successful Management of Two Consecutive Pregnancies With Maternal–Fetal Phenylketonuria: Lessons From Clinical Practice [PDF]

JIMD Reports
Phenylketonuria (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, Karin Blom Malmberg, Linda Lindström, Andreas Kindmark   +3 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   +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, Topf Hans G, Schellmoser Stefan, Zschocke Johannes, Knerr Ina, Dötsch Jörg, Rascher Wolfgang   +6 more
doaj   +3 more sources

Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report [PDF]

Molecular Genetics and Metabolism Reports, 2017
Background: In maternal PKU, protein substitute (PS) is provided by phenylalanine (PHE)-free l-amino acids (AA), but glycomacropeptide-based protein substitute (GMP) is an alternative consideration.
A. Pinto, M.F. Almeida, A. Cunha, C. Carmona, S. Rocha, A. Guimas, R. Ribeiro, C.R. Mota, E. Martins, A. MacDonald, J.C. Rocha   +10 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 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   +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 Diseases
Background Phenylketonuria is an autosomal recessive disorder characterized by the deficiency of phenylalanine hydroxylase, which converts phenylalanine into tyrosine.
Mehmet Cihan Balci, Deniz Kor, Yilmaz Yildiz, Meryem Karaca, Fatma Derya Bulut, Ayca Burcu Kahraman, Alihan Yesil, Ezgi Burgac, Kismet Ciki, Arzu Selamioglu, Burcu Koseci, Asli Durmus, Irem Kaplan, Esra Kara, Halise Neslihan Mungan, Serap Sivri, Gulden Fatma Gokcay, Aysegul Tokatli, Mubeccel Demirkol, Turgay Coskun, Imran Ozalp   +20 more
doaj   +2 more sources

A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system

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, Eriko Totsune, Yasuko Mikami-Saito, Atsuo Kikuchi, Toshio Miyata, Shigeo Kure   +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, Sinziana Stanescu, Amaya Belanger, Mercedes Martinez-Pardo, Francisco Arrieta   +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, Ann Wessel, Cary O. Harding, Susan E. Waisbren, Krista Viau, Amy Kritzer   +5 more
doaj   +1 more source