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A recent study conducted by the Division of Genetics explores the management of argininosuccinic aciduria (ASA), a disorder resulting from a deficiency in the urea cycle enzyme argininosuccinate lyase. The study emphasizes the variable manifestations of ASA, which can include hyperammonemia and various symptoms in neonates and later in life. The researchers highlight the importance of considering social determinants of health in the management of ASA, as demonstrated by a case study involving a male pediatric patient with ASA and his family's refugee status, language barriers, cultural adjustments, limited income, and transportation challenges. The study provides valuable insights into the management of urea cycle disorders in the context of socioeconomic and language barriers. [Extracted from the article]

Researchers from Moderna TX Inc. have submitted a patent application for a potential treatment for urea cycle disorders (UCD), a rare genetic disorder that affects the body's ability to process ammonia. The application focuses on the use of mRNA therapeutics to deliver functional ornithine transcarbamylase (OTC) protein to target cells, with the goal of improving treatment options for UCD. The invention also includes the use of lipid nanoparticles as a delivery method for the mRNA encoding OTC. The patent application addresses the need for improved treatments for UCD and provides detailed claims and methods for the use of the pharmaceutical composition in treating ornithine transcarbamylase deficiency (OTCD). [Extracted from the article]

A patent application has been submitted for the use of glycerol tribenzoate and glycerol phenylbutyrate in the treatment of neurodegenerative and urea cycle disorders. These disorders, such as Alzheimer's disease and Parkinson's disease, cause cognitive impairment and brain damage. The inventors have found that these substances provide a sustained-release form of sodium benzoate, the current treatment, which improves patient compliance. The pharmaceutical composition can be administered through various routes, and the method has shown promising results in reducing brain damage. The patent application also discusses methods for inhibiting the progression of urea cycle disorders using the same composition. [Extracted from the article]

A study conducted at Heidelberg University in Germany examined the impact of long-term supplementation with L-citrulline/arginine on individuals with urea cycle disorders (UCDs) who have undergone liver transplantation (LTx). The study found that supplementation with L-citrulline/arginine did not significantly alter anthropometric or neurocognitive outcomes in individuals with UCDs after LTx. Additionally, there was no significant change in disease-specific plasma amino acid levels. The researchers suggest that further analysis with larger sample sizes and longer observation periods is needed to determine the usefulness of long-term supplementation with L-citrulline/arginine for individuals with UCDs after LTx. [Extracted from the article]

ModernaTX Inc. has been issued a patent for polynucleotides encoding ornithine transcarbamylase (OTC) for the treatment of urea cycle disorders (UCD). UCD is a rare genetic disorder that affects the urea cycle, leading to the accumulation of ammonia in the body. The patent describes the use of messenger RNA (mRNA) therapeutics to deliver functional OTC protein within target cells, potentially providing an improved treatment option for UCD. The invention also features the use of lipid nanoparticles (LNPs) for the delivery of mRNA encoding OTC. This patent addresses the unmet need for improved treatments for UCD. [Extracted from the article]

A patent has been issued for genetically engineered bacteria that can treat diseases associated with hyperammonemia, a condition characterized by increased ammonia production in the body. Current treatments for hyperammonemia are considered suboptimal, so there is a need for more effective options. The genetically engineered bacteria can reduce excess ammonia and convert it into non-toxic substances. They can be introduced into the gut to lower ammonia levels and potentially provide a more reliable and long-term treatment for hyperammonemia and related conditions. The patent describes methods for selecting and targeting these bacteria, as well as pharmaceutical compositions containing them. The bacteria can be modified to produce non-toxic substances and improve gut barrier function. The patent provides specific details about the genetic modifications and promoters used in the engineered bacteria. [Extracted from the article]

A recent report from University Hospital Padova in Italy discusses the management of mild urea cycle disorders (UCDs) identified through newborn screening. UCDs are rare inborn errors of metabolism that can lead to serious health complications. The report emphasizes the importance of early diagnosis and treatment to improve survival and prevent complications. The researchers recommend completing the diagnosis through expanded newborn screening, following up with routine laboratory and metabolic profiles, and implementing a low-protein diet and nitrogen scavengers for therapy. Long-term follow-up should include growth and nutritional assessment, clinical and neurocognitive evaluation, and monitoring of laboratory and instrumental parameters. [Extracted from the article]

A report from the Erasmus University Medical Center in Rotterdam, Netherlands, discusses the management and clinical outcomes of pregnancies in women with urea cycle disorders (UCDs). The research highlights the increased number of women with UCDs reaching child-bearing age and becoming pregnant, as well as the risks associated with pregnancy for these women. The study found that with multidisciplinary management and a prospective plan, successful pregnancies, labor, delivery, and postpartum periods can be achieved. However, there is limited follow-up data on the clinical outcomes of children born to mothers with UCDs. The research emphasizes the importance of early diagnosis and treatment to prevent complications and deaths in previously undiagnosed women. [Extracted from the article]

A recent study conducted by researchers at Children's National Health System explored the impact of urea cycle disorders (UCD) on driving ability. UCD is a rare metabolic disorder that can affect executive functioning, which is crucial for safe driving. The study used functional near-infrared spectroscopy (fNIRS) to examine brain biomarkers in adult individuals with UCD during a driving task. The findings suggest that individuals with UCD may struggle with driving due to executive dysfunction. This research provides valuable insights into the neural networks involved in driving behavior and highlights the importance of understanding these networks to train safe drivers. [Extracted from the article]

A recent study from the University of Wisconsin Hospital explores urea cycle disorders (UCDs), which can lead to elevated levels of ammonia in the body and potentially cause irreversible neurological damage. While most UCDs are diagnosed in infants, mild cases can present in adulthood during periods of high physiological stress, such as critical illness. The study emphasizes the importance of screening for UCDs in adults with unexplained neurological symptoms and implementing a comprehensive management approach to prevent further deterioration. The research highlights the need to decrease ammonia production, avoid catabolism, and support both endogenous and exogenous ammonia clearance in the management of UCDs. [Extracted from the article]

Gene therapy, stem cell therapy, enzyme therapy and other novel technologies may offer options for treatment in UCD patients." Keywords: Hangzhou; People's Republic of China; Asia; Bioengineering; Biotechnology; Drugs and Therapies; Gene Therapy; Health and Medicine; Organic Chemicals; Pediatrics; Therapy; Urea; Urea Cycle Disorders EN Hangzhou People's Republic of China Asia Bioengineering Biotechnology Drugs and Therapies Gene Therapy Health and Medicine Organic Chemicals Pediatrics Therapy Urea Urea Cycle Disorders 618 618 1 10/24/23 20231027 NES 231027 2023 OCT 28 (NewsRx) -- By a News Reporter-Staff News Editor at Pediatrics Week -- New research on Biotechnology - Gene Therapy is the subject of a report. Hangzhou, People's Republic of China, Asia, Bioengineering, Biotechnology, Drugs and Therapies, Gene Therapy, Health and Medicine, Organic Chemicals, Pediatrics, Therapy, Urea, Urea Cycle Disorders. [Extracted from the article]

Keywords: Ammonia; Drugs and Therapies; Enzymes and Coenzymes; Health and Medicine; Hypothermia; Nitrogen Compounds; Organic Chemicals; Synthase; Urea; Urea Cycle Disorders EN Ammonia Drugs and Therapies Enzymes and Coenzymes Health and Medicine Hypothermia Nitrogen Compounds Organic Chemicals Synthase Urea Urea Cycle Disorders 1291 1291 1 10/03/23 20231006 NES 231006 2023 OCT 6 (NewsRx) -- By a News Reporter-Staff News Editor at Drug Week -- A new study on urea cycle disorders is now available. Ammonia, Drugs and Therapies, Enzymes and Coenzymes, Health and Medicine, Hypothermia, Nitrogen Compounds, Organic Chemicals, Synthase, Urea, Urea Cycle Disorders. [Extracted from the article]

Benzoic acid will remain as sodium benzoate that will scavenge glycine in conditions such as glycine encephalopathy and urea cycle disorders to remove it as hippuric acid through the urine. The inventors have taken advantage of this metabolic pathway for cinnamein in order to utilize is a prodrug of both cinnamic acid and sodium benzoate and this useful for the treatment of glycine encephalopathy and urea cycle disorders. More particularly, the present disclosure relates to methods and pharmaceutical compositions and/or formulations comprising the cinnamic acid analogue, cinnamein and or cinnamic acid, for the treatment of glycine encephalopathy and urea cycle disorders. [Extracted from the article]

Keywords: Amino Acids; Arginine; Basic Amino Acids; Citrulline; Diamino Amino Acids; Drugs and Therapies; Essential Amino Acids; Health and Medicine; Organic Chemicals; Urea; Urea Cycle Disorders EN Amino Acids Arginine Basic Amino Acids Citrulline Diamino Amino Acids Drugs and Therapies Essential Amino Acids Health and Medicine Organic Chemicals Urea Urea Cycle Disorders 1217 1217 1 08/07/23 20230808 NES 230808 2023 AUG 11 (NewsRx) -- By a News Reporter-Staff News Editor at Drug Week -- New study results on urea cycle disorders have been published. Median follow-up was 9.5 years and median exposure to first treatment with arginine + citrulline, citrulline monotherapy, or arginine monotherapy was 5.5, 2.5, or 0.3 years, respectively. [Extracted from the article]