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Biallelic Deletion of Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.
Mol Syndromol
October 2024
Department of Medical Genetics, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
Article Synopsis
- Peroxisome biogenesis disorders (PBDs) include various diseases with diverse symptoms like developmental delays, hearing loss, and liver issues, linked to genetic mutations affecting peroxisome function.* -
- A patient was studied using whole-exome sequencing to identify genetic causes behind their clinical symptoms, which included developmental delays and organ enlargement, but no single-nucleotide mutations were found.* -
- However, a homozygous deletion in exon 4 of the gene was identified, affecting the protein's transmembrane domain, which is crucial for normal cellular processes and peroxisome function.*
Mutation in a Child with Infantile Refsum Disease-A Case Report and Literature Review.
Children (Basel)
March 2023
Department of Family Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, Iași 700115, Romania.
Article Synopsis
- - The paper discusses a case study of a 2-year-old with infantile Refsum disease, detailing the progression of the child's multiple health complications, including hematologic and metabolic issues, and progressive disabilities.
- - Genetic testing identified a mutation in the Peroxisomal Biogenesis Factor 6 gene, aligning with the child's metabolic profile and contributing to altered coagulation factors and a spontaneous brain hemorrhage.
- - The child's clinical picture features various disorders across neurological, ophthalmological, digestive, cutaneous, and endocrine systems, linked to the buildup of very long chain fatty acids and oxidative anomalies, highlighting the significance of understanding genetic metabolic disorders in pediatric pathology.
Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder.
Case Rep Gastroenterol
March 2023
Department of Gastroenterology, Kirk Kerkorian School of Medicine at UNLV, Las Vegas, NV, USA.
Article Synopsis
- - Zellweger spectrum disorders (ZSDs) can lead to various liver issues, including mild conditions like hepatosplenomegaly and more severe problems like cirrhosis and liver cancer.
- - The progression of liver disease in ZSD patients is not well understood, mainly because the condition is rare.
- - This report highlights a case of a ZSD patient who quickly developed liver cirrhosis, emphasizing important clinical insights from this severe progression and its fatal consequences.
Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates.
Brain Dev
January 2023
Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan; Division of Clinical Genetics, Gifu University Hospital, Gifu, Japan.
Article Synopsis
- The study focuses on bile acid intermediates THCA and DHCA, which accumulate in certain peroxisomal disorders (PDs) like Zellweger spectrum disorder (ZSD), and aims to measure their levels for diagnosis and treatment evaluation.* -
- By using liquid chromatography-mass spectrometry on serum samples from patients with ZSD and other PDs, researchers found significant increases in bile acid levels for those with severe conditions, indicating the method's effectiveness in differentiating PDs.* -
- The results showed that primary bile acid treatment can alter levels of these intermediates, providing insight into treatment effectiveness and potential prognosis for patients with PDs.*
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