Results 11 to 20 of about 529,955 (177)
Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome [PDF]
JIMD Reports, 2012 Maternal Phenylketonuria Syndrome (MPKU) can occur in infants born to mothers with PKU with poor metabolic control during pregnancy. Elevated phenylalanine (phe) acts as a teratogen to the developing fetus with consequences including intellectual disability, microcephaly, facial dysmorphism, growth retardation, and congenital heart disease. MPKU can be
Gregory Rice, Heather Bankowski
exaly +5 more sources
Women, Midwives and Midwifery, 2023 Background: In 2020, the number of Infant Mortality Rates reached 2.4 million people due to LBW (34.5%). LBW contributes 60 to 80% of all infant deaths. LBW is babies born weighing less than 2500 grams.
Della Winanti, Elika Puspitasari
doaj +2 more sources
Behavioral Phenotyping of the Pah<sup>enu2</sup> Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives. [PDF]
J Inherit Metab DisABSTRACT Phenylketonuria (PKU) is a rare metabolic disorder resulting from a mutation in the gene encoding the enzyme phenylalanine hydroxylase (PAH), resulting in very high phenylalanine (Phe) levels in blood and brain. A PKU mutant mouse model was developed via N‐ethyl‐N‐nitrosourea (ENU) mutagenesis, mimicking the high brain Phe content seen in ...
Cao J +5 more
europepmc +2 more sources
Letter to the Editor in Response to Gondrand Et al. "Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria". [PDF]
J Inherit Metab DisJournal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
Carling RS, Whyte E, Moat SJ.
europepmc +2 more sources
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 +5 more
doaj +1 more source
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 +6 more
doaj +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 +18 more
europepmc +2 more sources
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 +3 more
core +1 more source
187 Maternal Phenylketonuria/PKU/ [PDF]
Pediatric Research, 1990 Social and family status aswell as intellectual level of 34 PKU girls being in reproductive age was analyzed. The analysis included history of 15 pregnancies. There vere 4 abortions, 2 pregnancies not treated ended with birth of malformed offspring, 3 with low phe diet introduced again during first trimester of pregnancy and 3 treated before the ...
Barbara Cabalska, Irena Nowaczewska
openaire +1 more source
Importância do diagnóstico e tratamento da fenilcetonúria
Revista de Saúde Pública, 2000 A fenilcetonúria (PKU) é o mais comum dos erros congênitos do metabolismo de aminoácidos. Resulta da deficiência da fenilalanina hidroxilase, enzima que catalisa a conversão de fenilalanina em tirosina.
Mira Nádia VM de +1 more
doaj +3 more sources