Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder [PDF]
American Journal of Ophthalmology Case ReportsPurpose: To report a 15 year old girl with citrullinemia type 1 and 2 accompanied by neurologic signs and symptoms and a novel ocular complaint in cornea like tyrosinemia type 2.
Davoud Amirkashani +5 more
doaj +2 more sources
Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission [PDF]
Frontiers in GeneticsAimThe aim of this study is to investigate if Preimplantation Genetic Testing (PGT) can effectively identify unreported variants according to American College of Medical Genetics and Genomics (ACMG)to prevent citrullinemia type 1 affection.DesignThis ...
Zubo Wu +4 more
doaj +2 more sources
Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1 [PDF]
Italian Journal of PediatricsBackground The arginine methyltransferase 7 (PRMT7) gene plays a role in signal transduction and protein interactions and negatively regulates neuronal differentiation.
Silvia Boeri +6 more
doaj +2 more sources
Looking beyond severe hypertriglyceridemia when diagnosing adult-onset citrullinemia type II [PDF]
European Journal of Case Reports in Internal MedicineBackground: Adult-onset citrullinemia type II (CTLN2) is a rare autosomal recessive urea cycle disorder caused by mutations in the solute carrier family 25 member 13 (SLC25A13) gene, which encodes citrin–a mitochondrial transporter involved in the malate–
Thanh-Huong Truong +6 more
doaj +2 more sources
Frontiers in Pediatrics, 2022 BackgroundIn this study, we evaluated the clinical characteristics, prognosis, and gene mutations of five children with citrullinemia type I (CTLN1) diagnosed in our department and identified two novel ASS1 gene mutations.MethodsWe examined the clinical ...
Mei Xiong, Mingwu Chen
exaly +3 more sources
Journal of the Formosan Medical Association, 2006 Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene.
Li-Chun Chang +2 more
exaly +3 more sources
Citrin Deficiency: Biochemical Mechanisms Underlying a Complex Hepatic Metabolic Disorder [PDF]
BiomoleculesCitrin Deficiency (CD), caused by pathogenic variants in SLC25A13, is a rare inherited metabolic disorder with age-dependent manifestations ranging from neonatal intrahepatic cholestasis to adult-onset citrullinemia.
Ismael García-Lobo +3 more
doaj +2 more sources
Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I. [PDF]
PLoS GeneticsSequence variants in the urea cycle gene argininosuccinate synthase (ASS1) cause Citrullinemia type 1 (CTLN1), a rare autosomal recessive disease. Mechanistically, reduction in argininosuccinate synthetase (ASS) enzyme activity impairs the urea cycle ...
Russell S Lo +8 more
doaj +2 more sources
Identification of Novel Mutations in Chinese Infants With Citrullinemia
Frontiers in Genetics, 2022 Citrullinemia is a rare autosomal recessive disorder characterized by elevated concentrations of citrulline in the blood resulting from malfunction of the urea cycle. It is categorized into two types, types I and II, which are caused by argininosuccinate
Zhi Cheng +9 more
doaj +1 more source
Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia
Frontiers in Pediatrics, 2021 Objectives: This study aims to assess the feasibility of using hemofiltration for ammonia clearance in low body weight infants with an inborn error of metabolism.Design: A study of two cases.Setting: Quaternary pediatric hospital (Saint Louis Children's ...
Christopher Markham +6 more
doaj +1 more source