Results 11 to 20 of about 475,319 (124)

Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders [PDF]

EMBO Molecular Medicine, 2020
Urea cycle disorders (UCD) are inherited defects in clearance of waste nitrogen with high morbidity and mortality. Novel and more effective therapies for UCD are needed.
Leandro R Soria, Sonam Gurung, Giulia De Sabbata, Dany P Perocheau, Angela De Angelis, Gemma Bruno, Elena Polishchuk, Debora Paris, Paola Cuomo, Andrea Motta, Michael Orford, Youssef Khalil, Simon Eaton, Philippa B Mills, Simon N Waddington, Carmine Settembre, Andrés F Muro, Julien Baruteau, Nicola Brunetti‐Pierri   +18 more
doaj   +5 more sources

Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation [PDF]

Stem Cell Research
Argininosuccinic aciduria (ASA) is a rare inherited metabolic disease caused by argininosuccinate lyase (ASL) deficiency. Patients with ASA present with hyperammonaemia due to an impaired urea cycle pathway in the liver, and systemic disease with ...
Claire Duff, Madeha Islam, Onelia Gagliano, Hema Pramod, Hassan Rashidi, Manju Kurian, Paul Gissen, Julien Baruteau   +7 more
doaj   +5 more sources

One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency. [PDF]

JIMD Rep, 2015
Argininosuccinate lyase deficiency (ASLD) is a urea cycle disorder (UCD) treated with dietary adjustment and nitrogen scavenging agents. "Pheburane (R)" is a new tasteless and odour-free formulation of sodium phenylbutyrate, indicated in the treatment of
Uçar SK, Ozbaran B, Altinok YA, Kose M, Canda E, Kagnici M, Coker M.   +6 more
europepmc   +3 more sources

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency. [PDF]

Biomed Res Int, 2019
Pathogenic variants in the argininosuccinate lyase (ASL) gene have been shown to cause argininosuccinate lyase deficiency (ASLD); therefore, sequencing analysis offers advantages for prenatal testing and counseling in families afflicted with this ...
Zhao M, Hou L, Teng H, Li J, Wang J, Zhang K, Yang L.   +6 more
europepmc   +2 more sources

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

JIMD Rep
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
Zribi M, Bhouri M, Khatrouch S, Boudabous H, Häberle J, Abdelmoula MS, Chehida AB.   +6 more
europepmc   +2 more sources

Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors. [PDF]

Am J Hum Genet
Argininosuccinate lyase deficiency (ASLD) is a recessive metabolic disorder caused by variants in ASL. In an essential step in urea synthesis, ASL breaks down argininosuccinate (ASA), a pathognomonic ASLD biomarker.
Jalil S, Keskinen T, Juutila J, Sartori Maldonado R, Euro L, Suomalainen A, Lapatto R, Kuuluvainen E, Hietakangas V, Otonkoski T, Hyvönen ME, Wartiovaara K.   +11 more
europepmc   +2 more sources

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

J Inherit Metab Dis
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
Stolwijk NN, Penninx BMF, Bosch AM, Langeveld M, Salomons GS, Hollak CEM, Essential Nutritional Therapy Products for IMDs Consensus Group.   +6 more
europepmc   +2 more sources

Argininosuccinate Lyase Deficiency: Longterm Outcome of 13 Patients Detected by Newborn Screening [PDF]

Molecular Genetics and Metabolism, 2009
V E Shih
exaly   +2 more sources

Physical, cognitive, and social status of patients with urea cycle disorders in Japan

Molecular Genetics and Metabolism Reports, 2021
Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Severe hyperammonemia adversely affects the brain. Therefore, we conducted a nationwide study between January 2000 and March 2018 to understand the present status ...
Jun Kido, Shirou Matsumoto, Tetsuya Ito, Shinichi Hirose, Kaori Fukui, Kanako Kojima-Ishii, Yuichi Mushimoto, Shinobu Yoshida, Mika Ishige, Norio Sakai, Kimitoshi Nakamura   +10 more
doaj   +1 more source

Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia

JIMD Reports, 2021
Argininosuccinate lyase deficiency (ASLD, MIM #207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life‐threatening hyperammonemia, and a late‐onset form characterised by polymorphic
Laurent Leuger, Xavier Dieu, Juan Manuel Chao de la Barca, Mikael Moriconi, Guillaume Halley, Xavier Donin de Rosière, Pascal Reynier, Delphine Mirebeau‐Prunier, Chadi Homedan   +8 more
doaj   +1 more source