Results 31 to 40 of about 41,178 (242)

Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report

Clinical Practice and Cases in Emergency Medicine, 2023
Introduction: Citrullinemia type 1 (CTLN1) is a urea cycle disorder caused by defective argininosuccinate synthetase leading to impaired ammonia elimination.
Michael Borsuk, Mathew Saab, Michael Tobin   +2 more
doaj   +1 more source

Barriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives

Molecular Genetics and Metabolism Reports, 2016
Patients and families living with metabolic disorders face challenging dietary and drug treatment regimens. On the hypothesis that poor palatability, volume and frequency of drug/formula administration contribute to treatment non-adherence and ...
Oleg A. Shchelochkov, Klara Dickinson, Bruce F. Scharschmidt, Brendan Lee, Miguel Marino, Cynthia Le Mons   +5 more
doaj   +1 more source

Urea Cycle Disorders in Neonates: Six Case Reports

Journal of Pediatric Research, 2017
Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation. In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases)
Kıymet Çelik, Demet Terek, Özgür Olukman, Mehtap Kağnıcı, Şükran Keskin Gözmen, Erkin Serdaroğlu, Şebnem Çalkavur, Sertaç Arslanoğlu   +7 more
doaj   +1 more source

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

Urea cycle disorder presenting as bilateral mesial temporal sclerosis – an unusual cause of seizures: a case report and review of the literature

Journal of Medical Case Reports, 2018
Background Urea cycle disorders are secondary to defects in the system converting ammonia into urea, causing accumulation of ammonia and other byproducts which are neurotoxic.
Furene Sijia Wang, Denise Li Meng Goh, Hian Tat Ong   +2 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

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

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

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

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