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Arginase 1 deficiency (ARG1-D) is an autosomal recessive urea cycle disorder characterised by chronic hyperargininaemia, progressive spasticity, loss of mobility, and cognitive dysfunction. Standard of care (SOC), based on dietary protein restriction, rarely prevents progression. Pegzilarginase, a recombinant human enzyme, is the first approved disease-modifying therapy. We report outcomes from Study 102A (n = 14; up to […]

Subtle biological changes related to frailty may be undetected by standard clinical methods, and reliable biomarkers for frailty are still under investigation. This study was conducted to profile plasma metabolite patterns associated with frailty and validate the most significant metabolite for identifying and predicting frailty in cross-sectional and longitudinal analyses. The “Fujian Prospective Aging Cohort” […]

Altered gut microbiota‒metabolite interactions may result in intestinal inflammation severity variation in Crohn’s disease (CD). Magnetic resonance enterography (MRE) advances anti-inflammatory strategy development. We aimed to identify inflammation-related multiomics factors and MRE interactions for CD management, analyzing 425 CD patients and 42 healthy controls undergoing MRE, ileocolonoscopy, and fecal/blood sampling (microbiota/metabolite analyses), with intestinal inflammation […]

The increasing incidence of obesity has been associated with various diseases, including inflammatory bowel disease. Guanidinoacetic acid (GAA) regulated various crucial physiological processes. The present study aimed to determine the action of dietary GAA on high-fat diet (HFD)-induced colitis in middle-aged mice. Mice (8 months old) were fed chow or HFD with or without GAA […]

Burns are a common and serious health issue, with severe burn-induced acute kidney injury (AKI) being a major factor contributing to poor recovery and increased mortality in patients. Theabrownins (TBs), bioactive compounds formed during tea leaf fermentation, have shown promising effects on reducing inflammation, combating oxidative stress, and enhancing metabolic function. However, the roles and […]

Syringomyelia (SM) is characterized by the development of fluid-filled cavities, referred to as syrinxes, within the spinal cord tissue. The molecular etiology of SM post-spinal cord injury (SCI) is not well understood and only invasive surgical based treatments are available to treat SM clinically. This study builds upon our previous omics studies and in vitro […]

Impairment of excretion and enzymatic processing of nitrogen, e.g. due to liver or kidney failure, or with urea cycle and creatine synthesis enzyme defects, surprisingly leads to primarily neurologic symptoms, yet the exact mechanisms remain largely mysterious. In guanidinoacetate N-methyltransferase (GAMT) deficiency, the guanidino compound guanidinoacetate (GAA) increases dramatically, including in the cerebrospinal fluid (CSF), […]

The renewal and iteration of chemotherapy drugs have resulted in more frequent long-term remissions for patients with multiple myeloma (MM). MM has transformed into a chronic illness for many patients, but the cancer-related fatigue (CRF) of many MM convalescent patients experience is frequently overlooked. We investigated whether the accompanying treatment of family members would affect […]

Here, the authors described a rapid quantitative UPLC/MS/MS method for the simultaneous determination of these analytes using a normal-phase HILIC column after analyte derivatization. The approach is suitable for neonatal screening follow-ups and monitoring of the treatment for creatine deficiency syndromes. Liu N, Sun Q. Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine […]

The urea cycle generates arginine that is one of the major precursors for creatine biosynthesis. Here we evaluate levels of creatine and guanidinoacetate (the precursor in the synthesis of creatine) in plasma samples (ns = 207) of patients (np = 73) with different types of urea cycle disorders (ornithine transcarbamylase deficiency (ns = 22; np […]