Results 21 to 30 of about 27,934,643 (129)

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I. [PDF]

J Inherit Metab Dis, 2010
Acute liver failure may be caused by a variety of disorders including inborn errors of metabolism. In those cases, rapid metabolic investigations and adequate treatment may avoid the need for liver transplantation.
de Groot MJ, Cuppen M, Eling M, Verheijen FW, Rings EH, Reijngoud DJ, de Vries MM, van Spronsen FJ.   +7 more
europepmc   +2 more sources

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients. [PDF]

Clin Genet
Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Abdmouleh A, Jilani H, Rejeb I, Hizem S, Pottier N, Larrue R, Arondal W, Hanquet L, Benrabeh R, Bouyahia O, Mazigh S, Elaribi Y, Benjemaa L.   +12 more
europepmc   +2 more sources

Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G>A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series [PDF]

, 2022
Background: Citrullinemia type 1 is an autosomal recessive disease resulting in ammonia accumulation in the blood, and if uncontrolled may progress to coma or death in the early months after birth.
Zeinali, Sirous, Hassanlou, Maryam, Abiri, Maryam, Maryam Hassanlou, Sirous Zeinali, Maryam Abiri   +5 more
core   +1 more source

Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil [PDF]

Genetics and Molecular Biology, 2020
Citrullinemia type 1 (CTLNI), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and mut0 methylmalonic acidemia (mut0 MMA) are inborn errors of metabolism (IEMs) associated with sudden unexpected death in infancy (SUDI).
Dévora N. Randon, Fernanda Sperb-Ludwig, Fernanda S. L. Vianna, Ana P. P. Becker, Carmen R. Vargas, Angela Sitta, Alexia N. Sant’Ana, Ida V. D. Schwartz, Fernanda H. de Bitencourt   +8 more
doaj   +1 more source

gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants [PDF]

, 2023
Background: Citrullinemia type 1 (CTLN1) is a rare autosomal recessive disease caused by argininosuccinate synthetase (ASS) deficiency. Manifestations vary from the acute neonatal or “classic” form to a milder, late-onset, or “unconventional” form.
Farra, Chantal G., Johnny Awwad, Melissa Daou, Hicham Mansour, Moukarzel, Adib A., Nemr, Antony, Daou, Melissa, Souaid, Mirna, Issam Khneisser, Salem, Nabiha, Nabiha Salem, Chantal Farra, Yammine, Tony, Awwad, Johnny T., Tony Yammine, Mirna Souaid, Antony Nemr, Khneisser, Issam, Mansour, Hicham, Adib Moukarzel   +19 more
core   +1 more source

Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency

Stem Cell Research & Therapy, 2017
Background Argininosuccinate synthase (ASS)1 is a urea cycle enzyme that catalyzes the conversion of citrulline and aspartate to argininosuccinate. Mutations in the ASS1 gene cause citrullinemia type I, a rare autosomal recessive disorder characterized ...
Maria Beatriz Herrera Sanchez, Sara Previdi, Stefania Bruno, Valentina Fonsato, Maria Chiara Deregibus, Sharad Kholia, Sara Petrillo, Emanuela Tolosano, Rossana Critelli, Marco Spada, Renato Romagnoli, Mauro Salizzoni, Ciro Tetta, Giovanni Camussi   +13 more
doaj   +1 more source

Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes. [PDF]

Am J Pathol, 2010
International audienceCitrullinemia type I (CTLN1, OMIM# 215700) is an inherited urea cycle disorder that is caused by an argininosuccinate synthetase (ASS) enzyme deficiency.
Perez CJ, Jaubert J, Guénet JL, Barnhart KF, Ross-Inta CM, Quintanilla VC, Aubin I, Brandon JL, Otto NW, DiGiovanni J, Gimenez-Conti I, Giulivi C, Kusewitt DF, Conti CJ, Benavides F.   +14 more
europepmc   +2 more sources

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

, 2023
Introduction: Citrullinemia type 1 (CTLN1) is a urea cycle disorder caused by defective argininosuccinate synthetase leading to impaired ammonia elimination.
Saab, Mathew, Tobin, Michael, Borsuk, Michael, Michael Tobin, Michael Borsuk, Mathew Saab   +5 more
core   +1 more source

Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency

Diseases, 2020
Citrin is a liver-specific mitochondrial aspartate−glutamate carrier encoded by SLC25A13. Citrin deficiency caused by SLC25A13 mutation results in carbohydrate toxicity, citrullinemia type II, and fatty liver diseases, the mechanisms of some of ...
Chalongchai Chalermwat, Thitipa Thosapornvichai, Laran T. Jensen, Duangrurdee Wattanasirichaigoon   +3 more
doaj   +1 more source

AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures

Biomolecules, 2020
Can you imagine a disease in which intake of an excess amount of sugars or carbohydrates causes hyperammonemia? It is hard to imagine the intake causing hyperammonemia.
Takeyori Saheki, Mitsuaki Moriyama, Aki Funahashi, Eishi Kuroda   +3 more
doaj   +1 more source