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Adults with Phenylketonuria have suboptimal bone mineral density apart from vitamin D and calcium sufficiency.
Front Endocrinol (Lausanne)
March 2025
Research Department of Child Nutrition, University Children's Hospital of Ruhr-University Bochum, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.
Introduction: Improvement of early diagnosis and treatment in patients with Phenylketonuria (PKU) allowed for healthy survival into adulthood of these patients, but non-neurological health impairments of unknown etiology emerged. One of these is impaired bone health that manifests in adolescence and adulthood, potentially depending not only on treatment adherence but also on additional lifestyle factors and nutrition.
Methods: Eighteen adults with PKU (18.
Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.
Nutrients
February 2025
Unit of Pediatrics, Department of Medicine and Surgery, University Kore of Enna, 94100 Enna, Italy.
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. This study retrospectively analyzed outcomes of pregnancies in PKU-affected women and conducted a systematic review on the timing of dietary management and its impact on outcomes. This retrospective study included data from nine PKU-affected women and 14 pregnancies followed at the Regional Reference Center for Metabolic Diseases in Catania.
View Article and Find Full Text PDFDisruption of fibrillar assemblies of L-phenylalanine using polyphenol-passivated nanocarbon as a potential therapeutic strategy against phenylketonuria.
Org Biomol Chem
March 2025
Department of Biological Sciences & Bioengineering, Indian Institute of Technology Kanpur, Kalyanpur, Kanpur, UP 208016, India.
One of the pathological manifestations of phenylketonuria (PKU) is the formation of fibrillar assemblies of the aromatic amino acid L-phenylalanine at pathological concentrations. As a possible therapeutic strategy for PKU, we introduce a nanocarbon system passivated with polyphenol gallic acid (CNPGA), which has the ability to disrupt and inhibit the formation of fibrillar assemblies. The CNPGA was prepared using a rapid and facile microwave-assisted one-pot method from an aqueous solution of sucrose and gallic acid and fully characterized using UV-Vis, FT-IR, XRD, XPS, TEM, zeta potential and DLS measurements.
View Article and Find Full Text PDFGenotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.
Nutrients
January 2025
Unit of Pediatrics, Department of Medicine and Surgery, University Kore of Enna, 94100 Enna, Italy.
: Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to impaired amino acid metabolism. Early diagnosis through newborn screening (NBS) enables prompt treatment, preventing neurological complications. This study aims to describe the genetic and phenotypic spectrum of PKU and mild hyperphenylalaninemia (m-HPA) in patients diagnosed at the Department of Inborn Errors of Metabolism and Newborn Screening, Hospital G.
View Article and Find Full Text PDFConcurrent Phenylketonuria and Pyogenic Sacroiliitis: A Case Report Highlighting Rare Co-Occurrence.
Int J Rheum Dis
January 2025
Division of Rheumatology, Department of Physical Medicine and Rehabilitation, Erciyes University School of Medicine, Kayseri, Turkey.
A 19-year-old male patient with phenylketonuria (PKU) was presented to our clinic with complaints of left hip pain and fever for one week. Physical examination and MRI examination showed findings compatible with pyogenic sacroiliitis and an abscess in the left iliopsoas muscle. The patient's clinical and radiological findings improved markedly with empirical antibiotic treatment.
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