Results 61 to 70 of about 23,446 (182)

Blood metabolomics analysis identifies abnormalities in the citric acid cycle, urea cycle, and amino acid metabolism in bipolar disorder

, 2016
BackgroundBipolar disorder (BD) is a severe and debilitating psychiatric disorder. However, the precise biological basis remains unknown, hampering the search for novel biomarkers.
Pålsson, Erik, Sellgren, Carl M., Jakobsson, Joel,, Yoshimi, Noriko, Futamura, Takashi, Holmén-Larsson, Jessica, Jakobsson, Joel, Salehi, Alireza M, Holmén Larsson, Jessica,, Landén, Mikael,, Salehi, Alireza M., Hashimoto, Kenji, Landén, Mikael, Kakumoto, Keiji, Sellgren, Carl M, Pålsson, Erik,   +15 more
core   +1 more source

Neurometabolic disorders: urea-cycle disorder, outcomes, development and treatment

, 2008
The urea-cycle disorders (UCDs) are a group of congenital enzyme and carrier deficiencies predisposing to fatal hyperammonemia. Hyperammonemia causes alterations of neurotransmitter function and cell volume, leading to cerebral edema.
Amanda Rigas, Andrea L Gropman
core   +1 more source

Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype [PDF]

, 2017
Ornithine transcarbamylase deficiency (OMIM: 311250) is the most common disorder of urea cycle disorders, accounting for nearly 50% of all cases. We report a case of a two-month- old male patient, who attends our medical genetics consultation because of ...
Mary García, Fernando Suárez-Obando, Alejandra Rincón, Ana Isabel Sánchez   +3 more
core   +2 more sources

N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment

The Application of Clinical Genetics, 2011
Nicholas Ah Mew, Ljubica CaldovicCenter for Genetic Medicine Research, Children’s Research Institute, Children’s National Medical Center, Washington DC, USAAbstract: The conversion of ammonia into urea by the human liver requires the ...
Caldovic L, Ah Mew N
doaj  

Proof-of-Concept Gene Editing for the Murine Model of Inducible Arginase-1 Deficiency

Scientific Reports, 2017
Arginase-1 deficiency in humans is a rare genetic disorder of metabolism resulting from a loss of arginase-1, leading to impaired ureagenesis, hyperargininemia and neurological deficits. Previously, we generated a tamoxifen-inducible arginase-1 deficient
Yuan Yan Sin, Phillipe R. Price, Laurel L. Ballantyne, Colin D. Funk   +3 more
doaj   +1 more source

The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease

, 1999
Thirty-three children ranging from 2 weeks to 12 years of age were selected for allopurinol loading, 16 on the basis of an increased urinary orotate excretion detected by routine organic acid analysis (group A) and 17 for clinical reasons suggesting a ...
Land, JM, Sharrard, M, Guthrie, P, Duley, JA, Rittey, C, Downing, M, Fairbanks, LD, Allen, JC, Bonham,, Fensom, A, Tanner, MS, O'Neill, D   +11 more
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Trastorno del ciclo de la urea: reporte de caso

, 2017
Background: Disorders of urea cycle constitute approximately 50% of severe neonatal hyperammonemia. These disorders are consequence of the deficiency of some of the enzymes involved in the cycle.
Álvarez, Adolfo, Gallón, Carlos, Ruíz, Ornella   +2 more
core   +1 more source

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

BMC Research Notes, 2010
Background Argininosuccinic aciduria (ASAuria) is an autosomal recessive disorder of the urea cycle relatively common in Saudi Arabia as a consequence of extensive consanguinity.
Rashed Mohamed S, Alsmadi Osama, Al-Mubarak Bashair R, Trabzuni Danyah, Al-Sayed Moeen, Imtiaz Faiqa, Meyer Brian F   +6 more
doaj   +1 more source

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria [PDF]

, 2021
Loss of function of the urea cycle enzyme argininosuccinate lyase (ASL) is caused by mutations in the ASL gene leading to ASL deficiency (ASLD). ASLD has a broad clinical spectrum ranging from life-threatening severe neonatal to asymptomatic forms ...
Rüfenacht, Véronique, Pandey, Amit, Häberle, Johannes, Eggimann, Sandra, Nuoffer, Jean-Marc, Balmer, Cécile, Hu, Liyan   +6 more
core  

Comparison of Microflow and Analytical Flow Liquid Chromatography Coupled to Mass Spectrometry Global Metabolomics Methods Using a Urea Cycle Disorder Mouse Model

, 2021
Microscale-based separations are increasingly being applied in the field of metabolomics for the analysis of small-molecule metabolites. These methods have the potential to provide improved sensitivity, less solvent waste, and reduced sample-size ...
Alla Kloss, Nelson S. Yew (11768564), Adam J. Belanger, Nelson S. Yew, Harvey Lieberman, Alla Kloss (11768567), Adam J. Belanger (11768561), Sarah Geller (11768555), Alexander R. Ivanov (844567), Sarah Geller, Harvey Lieberman (11768558), Alexander R. Ivanov   +11 more
core   +1 more source