Results 11 to 20 of about 1,727,355 (121)

Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry

Molecular Genetics and Metabolism Reports
Women with phenylketonuria (PKU) should maintain blood phenylalanine (phe) concentration within the recommended range before and during pregnancy to prevent maternal PKU syndrome (MPKUS) in their offspring.
Aileen Kenneson, Margite I. Borth, Rani H. Singh   +2 more
doaj   +2 more sources

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 methadone use in pregnancy : factors associated with the development of neonatal abstinence syndrome and implications for healthcare resources [PDF]

, 2009
The objectives of this study were to investigate factors associated with the development of neonatal abstinence syndrome (NAS) and to assess the implications for healthcare resources of infants born to drug-misusing women. Design.
Dryden, C, C Dryden, D Young, M Hepburn, Hepburn, M., Mactier, H., Young, DG, Dryden, C., MacTier, H, Hepburn, M, Young, D., H Mactier   +11 more
core   +4 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

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

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

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

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   +1 more source

Protective effect of recombinant adeno-associated virus 2/8-mediated gene therapy from the maternal hyperphenylalaninemia in offsprings of a mouse model of phenylketonuria

, 2021
Phenylketonuria (PKU) is an autosomal recessively inherited metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH). The accumulation of phenylalanine leads to severe mental and psychomotor retardation, and the fetus of an ...
박주원, 정성철, 박혜영
core   +1 more source

Parenting syles and coping strategies in PKU early detected children [PDF]

, 2021
: Phenylketonuria (PKU) requires tight control to prevent neurocognitive impairment but reports show that patients may present mild cognitive defects related to higher impulsivity.
Chiesa, Ana, Pardo Campos, María L., Enacan, Rosa, Valle, Maria G.   +3 more
core   +1 more source