Results 61 to 70 of about 51,297 (232)

Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapy

JIMD Reports, 2020
Ornithine transcarbamylase (OTC) deficiency is an X‐linked urea cycle disorder which—in severe form—results in rapid accumulation of ammonia and glutamine with subsequent irreversible brain injury. We present a case of severe left ventricular dysfunction
Adrian C. Mattke, Fumiaki Shikata, James McGill, Rob Justo, Prem Venugopal   +4 more
doaj   +1 more source

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events

Journal of Inherited Metabolic Disease, 2019
Beginning in 2006, the Urea Cycle Disorders Consortium (UCDC) has conducted a longitudinal study of eight inherited deficiencies of enzymes and transporters of the urea cycle, including 444 individuals with ornithine transcarbamylase deficiency (OTCD ...
Corinna Buerger, S. Garbade, F. D. Alber, S. Waisbren, R. McCarter, S. Kolker, P. Burgard   +6 more
semanticscholar   +1 more source

Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome

JPGN Reports, EarlyView.
Abstract Hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome is a rare metabolic condition that can cause lethargy, ataxia, tachypnea, nausea, vomiting, seizures, coma, and acute liver failure. We present a 26‐month‐old female with acute liver failure who was diagnosed with HHH 1 week after admission. Histology revealed an acute hepatitic
Tierra L. Mosher, Kathryn S. Czepiel, Matthew B. Neu, Andrea Carolina Cortes Fernandez, L. Walden Browne, Annie D. Niehaus, Roberto Gugig   +6 more
wiley   +1 more source

Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification

Journal of Inherited Metabolic Disease, 2019
The most common ureagenesis defect is X‐linked ornithine transcarbamylase (OTC) deficiency which is a main target for novel therapeutic interventions. The spf ash mouse model carries a variant (c.386G>A, p.Arg129His) that is also found in patients.
Gabriella Allegri, Sereina Deplazes, Nicole Rimann, B. Causton, Tanja Scherer, J. Leff, C. Dı́ez-Fernández, A. Klimovskaia, R. Fingerhut, J. Krijt, V. Kožich, J. Nuoffer, H. M. Grisch-Chan, B. Thöny, J. Häberle   +14 more
semanticscholar   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

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, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source

Nucleic Acid Therapeutics in Rare Disease: From Precision Medicine to Programmable Platforms

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nucleic acid therapeutics (NATs), including antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), messenger RNA (mRNA) therapeutics and programmable editing technologies, are reshaping the therapeutic landscape for inherited metabolic and genetic disease.
Tomasz Z. Tomkiewicz, Siyamini Sivananthan, Paul Gissen, Haiyan Zhou   +3 more
wiley   +1 more source

Reversible Post-Translational Carboxylation Modulates the Enzymatic Activity of N-Acetyl-l-ornithine Transcarbamylase

, 2016
N-Acetyl-l-ornithine transcarbamylase (AOTCase), rather than ornithine transcarbamylase (OTCase), is the essential carbamylase enzyme in the arginine biosynthesis of several plant and human pathogens.
Dashuang Shi (166960), Mendel Tuchman (181707), Xiaolin Yu (192623), Jeremy Ho (43030), Norma M. Allewell (192642), David Fushman (239364), Yongdong Li (192610)   +6 more
core   +1 more source

Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency.

JIMD Reports, 2016
A male patient, born in 1999, was diagnosed with ornithine transcarbamylase deficiency as neonate and was managed with a strict low-protein diet supplemented with essential amino acids, L-citrulline, and L-arginine as well as sodium benzoate.
Alexander Laemmle, T. Stricker, J. Häberle   +2 more
semanticscholar   +2 more sources

Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case

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, Mariem Bhouri, Safa Khatrouch, Hela Boudabous, Johannes Häberle, Mohamed Slim Abdelmoula, Amel Ben Chehida   +6 more
wiley   +1 more source

Disease-causing Mutations in the Promoter and Enhancer of the Ornithine Transcarbamylase Gene

Human Mutation, 2018
The ornithine transcarbamylase (OTC) gene is on the X chromosome and its product catalyzes the formation of citrulline from ornithine and carbamylphosphate in the urea cycle.
Y. Jang, A. Labella, Timothy Feeney, N. Braverman, M. Tuchman, H. Morizono, Nicholas Ah Mew, L. Caldovic   +7 more
semanticscholar   +1 more source