Results 31 to 40 of about 41,607 (263)

A Case of Acrodermatitis Dysmetabolica in a Child Affected by Citrullinemia Type I: When Early Diagnosis and Timely Treatment Are Not Enough

Children, 2023
An infant with a prenatal diagnosis of citrullinemia, who started standard treatment at birth (L-arginine; sodium benzoate and a personalized diet characterized by a low protein intake and supplementation of essential nutrients and amino acids ...
Laura Bruni, Alessandra Cassio, Valeria Di Natale, Federico Baronio, Rita Ortolano, Andrea Pession, Bianca Maria Piraccini, Iria Neri   +7 more
doaj   +1 more source

Psychiatric adult-onset of urea cycle disorders: A case-series

Molecular Genetics and Metabolism Reports, 2017
Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe the characteristics of patients presenting with a psychiatric adult-onset of UCDs, to discuss which signs could ...
Adrien Bigot, Paul Brunault, Christian Lavigne, François Feillet, Sylvie Odent, Elsa Kaphan, Christel Thauvin, Vanessa Leguy, Pierre Broué, Michel C. Tchan, François Maillot   +10 more
doaj   +1 more source

The Molecular Aspect of Nephrolithiasis Development

Cells, 2021
Urolithiasis is the third most common urological disease after urinary tract infections and prostate diseases, and it is characterised by an occurrence rate of about 15%, which continues to rise. The increase in the incidence of kidney stones observed in
Paulina Wigner, Radosław Grębowski, Michal Bijak, Janusz Szemraj, Joanna Saluk-Bijak   +4 more
doaj   +1 more source

Partial N‐acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management

JIMD Reports, 2023
N‐acetyl glutamate synthase (NAGS) deficiency (OMIM #: 237310) is a rare urea cycle disorder that usually presents early in life with hyperammonemia.
Lea Abou Haidar, Panayotis Pachnis, Garrett K. Gotway, Min Ni, Ralph J. DeBerardinis, Markey C. McNutt   +5 more
doaj   +1 more source

Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate

Molecular Genetics and Metabolism Reports, 2015
Urinary phenylacetylglutamine (U-PAGN) concentrations in spot urine samples were analyzed as a dosing biomarker during glycerol phenylbutyrate (GPB) dosing in 68 healthy adults and 66 adult and pediatric patients with urea cycle disorders who ...
M. Mokhtarani, G.A. Diaz, U. Lichter-Konecki, S.A. Berry, J. Bartley, S.E. McCandless, W. Smith, C. Harding, C. Le Mons, D.F. Coakley, B. Lee, B.F. Scharschmidt   +11 more
doaj   +1 more source

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders [PDF]

, 2020
Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long-term therapy of individuals with urea cycle disorders (UCDs), involve the risk of iatrogenic growth failure.
Garcia-Cazorla, Angeles, de Lonlay, Pascale, Yudkoff, Marc, Gropman, A. L., Nagamani, Sandesh CS, Garbade, S. F., Zielonka, M., Schulze, A., de Lonlay, P., Gleich, Florian, Baumgartner, Matthias R, Kölker, S., Dobbelaere, Dries, Hoffmann, Georg F, European registry and network for Intoxication type Metabolic Diseases (E-IMD), Gropman, Andrea L., Zielonka, Matthias, Garbade, Sven F, Baumgartner, Matthias R; https://orcid.org/, Baumgartner, Matthias R., Gleich, F., Hoffmann, Georg F., Garcia-Cazorla, A., Posset, Roland, Nagamani, S. C. S., Hoffmann, G. F., Kölker, Stefan, Urea Cycle Disorders Consortium (UCDC), Sokal, Etienne, Gropman, Andrea L, Nagamani, Sandesh C S, Schulze, Andreas, Posset, R., Baumgartner, M. R., Garbade, Sven F., Nagamani, Sandesh C. S., Yudkoff, M.   +36 more
core   +1 more source

Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate

Molecular Genetics and Metabolism Reports, 2016
Background: Little prospectively collected data are available comparing the dietary intake of urea cycle disorder (UCD) patients to UCD treatment guidelines or to healthy individuals.
Debra Hook, George A. Diaz, Brendan Lee, James Bartley, Nicola Longo, William Berquist, Cynthia Le Mons, Ingrid Rudolph-Angelich, Marty Porter, Bruce F. Scharschmidt, Masoud Mokhtarani   +10 more
doaj   +1 more source

Considerations on urea cycle disorders: a child with ornithine transcarbamylase deficiency. [PDF]

Pediatric Anesthesia and Critical Care Journal (PACCJ), 2016
Ornithine transcarbamylase deficiency is the most common inside the group of the urea cycle disorders. Anesthesic management focus on reduce the patient ́s stress along all the surgical process.
M. Bellido, M. Gonzalez Perez, A. Martinez Ruiz, I. Barcelo   +3 more
doaj   +1 more source

Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells

Molecular Therapy: Nucleic Acids, 2016
Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in ...
Patrick C Lee, Brian Truong, Agustin Vega-Crespo, W Blake Gilmore, Kip Hermann, Stephanie AK Angarita, Jonathan K Tang, Katherine M Chang, Austin E Wininger, Alex K Lam, Benjamen E Schoenberg, Stephen D Cederbaum, April D Pyle, James A Byrne, Gerald S Lipshutz   +14 more
doaj   +1 more source

Current role of enzyme analysis for urea cycle disorders

, 2014
Urea cycle disorders (UCD) are due to defects of any of its six enzymes or two transporters. The definitive diagnosis of defects of the three mitochondrial enzymes, N-acetylglutamate synthase (NAGS), carbamylphosphate synthetase I (CPS1) and ornithine ...
Eggimann, Sandra, Nuoffer, Jean-Marc, Gautschi, Matthias   +2 more
core   +1 more source