Results 11 to 20 of about 3,357 (148)

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

JIMD Rep
ABSTRACT 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. Treatment involves a Phe‐restricted diet, amino acid supplements, and for a subset of patients, a tetrahydrobiopterin (BH4 ...
Lundkvist P, Malmberg KB, Lindström L, Kindmark A.   +3 more
europepmc   +3 more sources

Increased Brown Adipose Tissue Thermogenesis in Phenylketonuria. [PDF]

MedComm (2020)
In phenylketonuria (PKU), elevated phenylalanine (Phe) increases hepatic fibroblast growth factor 21 (FGF21) and thyroid hormones, enhancing brown adipose tissue (BAT) thermogenesis in patients. Central FGF21 reproduces this phenotype in rodents via reduced hypothalamic AMP‐activated protein kinase (AMPK) activity in the ventromedial nucleus of the ...
López-Rey N, Cabaleiro A, Pata MP, Peyrou M, Estévez-Salguero Á, Fernández-Sanmartín P, Morgan DA, Ferreira V, Sánchez-Pintos P, Folgueira C, Diéguez C, Urisarri A, González-García I, Seoane LM, Rahmouni K, Villarroya F, Couce ML, Nogueiras R, López M.   +18 more
europepmc   +2 more sources

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature. [PDF]

Nutrients
Background: Phenylketonuria (PKU) poses significant challenges for maternal and neonatal outcomes, requiring strict adherence to dietary protocols to maintain optimal maternal phenylalanine (Phe) levels during pregnancy.
Leone G, Meli C, Falsaperla R, Gullo F, Licciardello L, La Spina L, Messina M, Lo Bianco M, Sapuppo A, Pappalardo MG, Iacobacci R, Arena A, Vecchio M, Ruggieri M, Polizzi A, Praticò AD.   +15 more
europepmc   +2 more sources

Maternal Phenylketonuria: Consequences of Dietary Non-Adherence and Gaps in Preconception Care-A Case Report. [PDF]

J Clin Med
Background: Maternal phenylketonuria (PKU), a metabolic disorder caused by defective phenylalanine hydroxylase activity, requires strict lifelong dietary management to prevent toxic phenylalanine accumulation.
Donarska J, Szablewska AW, Wierzba J.
europepmc   +2 more sources

The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria. [PDF]

Eur J Neurol
This infographic summarizes the study on the perceived role of digital tools in supporting information, education, and communication in phenylketonuria (PKU) care. Survey findings from patients, caregivers, and healthcare professionals highlight a preference for hybrid care pathways that integrate digital solutions with face‐to‐face consultations ...
Cannizzo S, Quoidbach V, Sheehan-Gilroy B, Hagedorn T, Bak A, Dickson SL, Treacy EP, Hermida A, MacDonald A, Venegas E, O'Byrne J, Scarpa M, Van Spronsen F, Lange E, Buckinx T, Monavari A, Dahl SV, Trieste L, Turchetti G.   +18 more
europepmc   +2 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   +2 more sources

Additional file 1 of Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

, 2021
Additional file 1.
Stefanie Rosenbaum-Fabian (5213282), Alexandra Jung (11727935), Oxana Joos (11727953), Christoph Baerwald (11727920), Simone Luttat (11727944), Carmen Rohde (11727914), Rudolf Georg Ascherl (11727923), Monika Joerg-Streller (11727941), Tina Winkler (11727950), Sabine Matzgen (11727947), Christina Heller (11727932), Dinah Lier (11727926), Ulrike Och (11727929), Skadi Beblo (144186), Alena Gerlinde Thiele (11727917), Kathrin Schönherr (11727938)   +15 more
core   +1 more source

Phenylketonuria felnőttkorban | Adult phenylketonuria [PDF]

, 2017
Absztrakt: A phenylketonuria 1975 óta az újszülöttkori tömegszűrés része. Mára már hazánkban is felnőtt egy olyan generáció, amely születésétől kezdve speciális diétát tart és orvosi tápszert ...
Reismann, Péter, Barta, András Gellért, Barta András Gellért, András Gellért Barta, Sumánszki, Csaba, Péter Reismann, Csaba Sumánszki   +6 more
core   +1 more source

Fenilcetonúria materna: relato de caso Maternal phenylketonuria: a case report [PDF]

, 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.
Carlos Augusto Botelho, Geraldo Duarte, Flávio Renato de Almeida Senefonte, Alessandro Henrique Antunes Lopes, Virgilio Gonçalves de Souza Júnior, Ernesto Antonio Figueiró-Filho   +5 more
core   +1 more source

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria [PDF]

, 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, Zschocke Johannes, Johannes Zschocke, Corina Weigel, Hans G Topf, Jörg Dötsch, Schellmoser Stefan, Rascher Wolfgang, Topf Hans G, Ina Knerr, Dötsch Jörg, Stefan Schellmoser, Wolfgang Rascher, Knerr Ina   +13 more
core   +1 more source