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L-carnitine protects against oxidative damage and neuroinflammation in cerebral cortex of rats submitted to chronic chemically-induced model of hyperphenylalaninemia.
Metab Brain Dis
January 2025
Programa de Pós-Graduação em Ciências Farmacêuticas, Universidade Federal do Rio Grande do Sul, Avenida Ipiranga, 2752, Porto Alegre, CEP 90610-000, RS, Brazil.
Phenylketonuria is a genetic disorder characterized by high phenylalanine levels, the main toxic metabolite of the disease. Hyperphenylalaninemia can cause neurological impairment. In order to avoid this symptomatology, patients typically follow a phenylalanine-free diet supplemented with a synthetic formula that provides essential amino acids, including L-carnitine.
View Article and Find Full Text PDFCurrent approaches in CRISPR-Cas system for metabolic disorder.
Prog Mol Biol Transl Sci
January 2025
School of Health Sciences & Technology, UPES, Dehradun, Uttarakhand, India. Electronic address:
A new era in genomic medicine has been brought by the development of CRISPR-Cas technology, which presents hitherto unheard-of possibilities for the treatment of metabolic illnesses. The treatment approaches used in CRISPR/Cas9-mediated gene therapy, emphasize distribution techniques such as viral vectors and their use in preclinical models of metabolic diseases like hypercholesterolemia, glycogen storage diseases, and phenylketonuria. The relevance of high-throughput CRISPR screens for target identification in discovering new genes and pathways associated with metabolic dysfunctions is an important aspect of the discovery of new approaches.
View Article and Find Full Text PDFNo QT interval prolongation effect of sepiapterin: a concentration-QTc analysis of pooled data from phase 1 and phase 3 studies in healthy volunteers and patients with phenylketonuria.
J Pharmacokinet Pharmacodyn
January 2025
PTC Therapeutics, Warren, NJ, USA.
Sepiapterin is an exogenously synthesized new chemical entity that is structurally equivalent to endogenous sepiapterin, a biological precursor of tetrahydrobiopterin (BH), which is a cofactor for phenylalanine hydroxylase. Sepiapterin is being developed for the treatment of hyperphenylalaninemia in pediatric and adult patients with phenylketonuria (PKU). This study employed concentration-QT interval analysis to assess QT prolongation risk following sepiapterin treatment.
View Article and Find Full Text PDFLessons learned from 5 years of pegvaliase in US clinics: A case series.
Mol Genet Metab Rep
March 2025
Hayward Genetics Center, Dept of Pediatrics, Tulane University Medical School, New Orleans, LA, USA.
Objective: To provide insights and strategies for pegvaliase management in challenging cases with phenylketonuria (PKU) based on the first 5 years of experience with pegvaliase in real-world clinical practice.
Methods: Twelve PKU experts gathered during a one-day, in-person meeting to discuss clinical cases illustrating important lessons from their experiences treating patients with pegvaliase in real-world clinical practice. Challenges with pegvaliase experienced prior to and during treatment and corresponding strategies to overcome them were discussed.
Concurrent 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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