Results 41 to 50 of about 467,750 (151)
Measuring Blood Plasma Glutamine Levels Using a Nanopore‐Based Sensor
Advanced Healthcare Materials, EarlyView.Glutamine (GLN) is a biomarker useful for predicting toxic ammonia accumulation. Here, we used a biosensor based on the Cytolysin A (ClyA) nanopore coupled with the GLN‐specific protein substrate‐binding domain 2 (SBD2) to demonstrate real‐time measurement of GLN in blood plasma, highlighting the potential for future point‐of‐care applications ...
Sofia B. Relvas +9 more
wiley +1 more source
Prenatal diagnosis of ornithine transcarbamylase deficiency: optimizing pregnancy outcome in a woman with previous affected babies [PDF]
, 2018 Ornithine Transcarbamylase (OTC) deficiency is an inherited X-linked disorder which predominantly affects males. Females are usually carriers and may rarely be symptomatic. Affected individuals may present with severe life threatening disease immediately
Chandrasekaran, Swaramya +3 more
core +1 more source
Ornithine Transcarbamylase – From Structure to Metabolism: An Update
Frontiers in Physiology, 2021 Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a ubiquitous enzyme found in almost all organisms, including vertebrates, microorganisms, and plants. Anabolic, mostly trimeric OTCs catalyze the production of L-citrulline from L-ornithine which is a part ...
Morgane Couchet +7 more
doaj +1 more source
, 2009 A 7-year-old female patient with a new diagnosis of ornithine transcarbamylase deficiency was treated for hyperammonemia with a standard protocol. Several days later, she developed ataxia, dysmetria, and dysarthria.
Bodensteiner, John B. +1 more
core +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Ornithine transcarbamylase deficiency: A possible risk factor for thrombosis
, 2009 Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. Thromboembolic complications have not heretofore been linked with this diagnosis.
Lakshmi Venkateswaran +15 more
core +1 more source
infection in a patient with ornithine transcarbamylase deficiency and liver transplant
, 2021 Rapidly growing mycobacteria, including Mycobacterium abscessus, have become a common cause of post-procedural infections and are notoriously difficult to diagnose and treat.
Fabrizio V. Galimberti +7 more
core +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk +39 more
wiley +1 more source
Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency [PDF]
Korean Journal of Pediatrics, 2011 Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns.
Hyo Jeong Kim +6 more
doaj +1 more source
JIMD Reports, Volume 67, Issue 6, November 2026.ABSTRACT Dual inherited defects affecting urea cycle function are exceptionally rare. We report the first case, to our knowledge, of the coexistence of argininosuccinic aciduria (ASA) and citrin deficiency (CD). A girl born to consanguineous Tunisian parents presented at 6 months of age with recurrent seizures, vomiting, developmental delay, and severe
Mouna Zribi +6 more
wiley +1 more source