Results 11 to 20 of about 16,232 (245)

Maternal phenylketonuria

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, Dalia Stonienė, Jūratė Buinauskienė, Aušrelė Kudrevičienė, Eglė Markūnienė, Rasa Tamelienė   +5 more
doaj   +2 more sources

Neurological images in phenylketonuria (PKU)

Acta Pediátrica de México, 2014
Phenylketonuria is an inborn error of metabolism that causes structural abnormalities in the white matter of the brain. In untreated patients demyelization can be observed, and there is evidence of intramyelin edema even in some treated patients. Imaging
Juan Francisco Cabello
doaj   +2 more sources

Epidemiologic view of phenylketonuria (PKU) in Latinamerica

Acta Pediátrica de México, 2014
Latin America is a region conformed by 20 countries characterized by a wide diversity among them, which can be demonstrated through several indicators such as rural population percentage, ethnicity, public health budget allocated and infant mortality ...
Gustavo JC Borrajo
doaj   +2 more sources

Diet Therapy and Nutritional Management of Phenylketonuria [PDF]

, 2022
Phenylketonuria (PKU) is an established inherited amino acid disorder with a very traditional dietary therapy, but there is still more to learn and verify about its nutritional composition, application and overall effectiveness.

core   +2 more sources

Phenylketonuria

Nature Reviews Disease Primers, 2021
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe intellectual disability, epilepsy and behavioural problems.
Francjan J, van Spronsen, Nenad, Blau, Cary, Harding, Alberto, Burlina, Nicola, Longo, Annet M, Bosch   +5 more
openaire   +5 more sources

Re: Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study. [PDF]

JIMD Rep
JIMD Reports, Volume 67, Issue 4, July 2026.
Hall PL, Turgeon C, Matern D.
europepmc   +2 more sources

Intestinal peroxisome proliferator‐activated receptor α‐fatty acid‐binding protein 1 axis modulates nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Abstract Background and Aims Peroxisome proliferator‐activated receptor α (PPARα) regulates fatty acid transport and catabolism in liver. However, the role of intestinal PPARα in lipid homeostasis is largely unknown. Here, intestinal PPARα was examined for its modulation of obesity and NASH. Approach and Results Intestinal PPARα was activated and fatty
Tingting Yan, Yuhong Luo, Nana Yan, Keisuke Hamada, Nan Zhao, Yangliu Xia, Ping Wang, Changdong Zhao, Dan Qi, Shoumei Yang, Lulu Sun, Jie Cai, Qiong Wang, Changtao Jiang, Oksana Gavrilova, Kristopher W. Krausz, Daxesh P. Patel, Xiaoting Yu, Xuan Wu, Haiping Hao, Weiwei Liu, Aijuan Qu, Frank J. Gonzalez   +22 more
wiley   +1 more source

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

Metabolomics of dietary fatty acid restriction in patients with phenylketonuria [PDF]

, 2012
Patients with phenylketonuria (PKU) have to follow a lifelong phenylalanine restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated fatty acids especially long chain polyunsaturated fatty acids (LC-PUFA).
Berthold Koletzko (144194), Thiery, Joachim, Berthold Koletzko, Bruegel Mathias, Linda Kortz, Kiess Wieland, Beblo, Skadi, Kortz, Linda, Kortz Linda, Linda Kortz (144188), Wieland Kiess (102793), Uta Ceglarek (144203), Skadi Beblo (144186), Claudia Matthies (144191), Kiess, Wieland, Bruegel, Mathias, Mathias Bruegel (144197), Wieland Kiess, Beblo Skadi, Ulrike Mütze, Koletzko Berthold, Skadi Beblo, Ceglarek Uta, Ceglarek, Uta, Ulrike Mütze (144183), Joachim Thiery, Joachim Thiery (66414), Rohde, Carmen, Matthies, Claudia, Matthies Claudia, Rohde Carmen, Uta Ceglarek, Mütze, Ulrike, Koletzko, Berthold, Mathias Bruegel, Carmen Rohde, Carmen Rohde (144200), Thiery Joachim, Mütze Ulrike, Claudia Matthies   +39 more
core   +1 more source

Nutritional contents of low phenylalanine diets: A mini review

Пищевые системы, 2023
Increased interest in the utilization of nutrition management of patients with phenylketonuria is clear. Applications include a small measured amount of phenylalanine given in the form of exchange food, phenylalanine-free protein substitute and low ...
A. S. M. Ammar
doaj   +1 more source