Articles tagged with Inborn Errors Of Metabolism
A new international survey reveals that adults with hypophosphataemic osteomalacia face a substantial disease burden, often under-recognised. The study calls for improved awareness, education, and coordinated care to ensure timely diagnosis and optimal treatment.
Researchers at the University of Houston have discovered a potential therapeutic strategy for counteracting muscle wasting in pancreatic cancer by blocking a specific cell pathway. Muscle wasting, also known as cachexia, is a debilitating syndrome affecting 60-85% of patients with pancreatic cancer.
The National Urea Cycle Disorders Foundation is establishing a multistakeholder Partner Network to guide health care decisions and build a sustainable infrastructure for UCD research. The project aims to empower the broad UCD community to work together effectively, identify research needs, and create a roadmap for future studies.
A child diagnosed with a rare genetic disorder has been successfully treated with a customized CRISPR gene editing therapy, showcasing the power of tailored gene editing to treat patients. The infant is now growing well and thriving after receiving three doses of the therapy with no serious side effects.
A new study reveals a connection between metabolic genes and immune system T cells, suggesting a potential new class of inborn errors of immunometabolism. Researchers identified genetic overlap between disorders of metabolism and immunity, pointing to a continuum between the two conditions.
A novel screening method using untargeted metabolomics profiling can improve the diagnostic rate for inborn errors of metabolism in newborns, identifying many more disorders than traditional methods. This approach offers a faster, more efficient, and less expensive diagnostic journey for individuals with rare metabolic disorders.
Dr. Nishitha Pillai, a second-year medical genetics resident at Baylor College of Medicine, has been awarded the 2018-2019 Sanofi Genzyme/ACMG Foundation Next Generation Fellowship Award for her work in Medical Biochemical Genetics. The award will provide clinical and research experience to support her training.
Children with inborn errors of metabolism received vaccines on the same schedule as healthy infants without significant increases in ER visits or hospitalizations. However, smaller subsets of children may be at increased risk for adverse events during the immediate post-vaccination period.