Lethality rescue and long-term amelioration of a citrullinemia type I mouse model by neonatal gene-targeting combined to SaCRISPR-Cas9 [PDF]
Molecular Therapy: Methods & Clinical Development, 2023 Citrullinemia type I is a rare autosomal-recessive disorder caused by deficiency of argininosuccinate synthetase (ASS1). The clinical presentation includes the acute neonatal form, characterized by ammonia and citrulline accumulation in blood, which may ...
Michela Lisjak +8 more
doaj +3 more sources
A Case of Acrodermatitis Dysmetabolica in a Child Affected by Citrullinemia Type I: When Early Diagnosis and Timely Treatment Are Not Enough [PDF]
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 +7 more
doaj +5 more sources
Citrullinemia Type I in Chinese Children: Identification of Two Novel Argininosuccinate Synthetase Gene Mutations [PDF]
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 +4 more sources
Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant [PDF]
Clinics and Practice, 2013 Citrullinemia type I (CTLN1) is an inherited urea cycle disorder, now included in most newborn screening panels in the US and Europe. Due to argininosuccinate synthetase deficiency, CTLN1 can lead to recurrent hyperammonemic crisis that may result in ...
Yoona Rhee +3 more
doaj +3 more sources
Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I [PDF]
Frontiers in Genetics, 2023 Background: Citrullinemia type I (CTLN1) is a rare autosomal recessive inborn error of the urea cycle caused by mutations in the gene encoding the arginosuccinate synthetase (ASS1) enzyme.
Jing Liu +18 more
doaj +2 more sources
Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I [PDF]
Frontiers in Neurology, 2023 In this case study, we report the case of a 13-year-old girl with citrullinemia type 1 (MIM #215700), an autosomal recessive inherited disorder of the urea cycle, which was confirmed by the identification of a homozygous pathogenic variant in the ...
Audrey Pontrucher +7 more
doaj +2 more sources
Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review [PDF]
BMC Pregnancy and Childbirth, 2022 Background Citrullinemia type I (CTLN1) is a rare urea cycle disorder (UCD) with few adult cases described so far. Diagnosis of late-onset CTLN1 is difficult, and delayed treatment may increase the risk of severe hyperammonemia. Pregnancy is an important
Yimeng Zhou +4 more
doaj +2 more sources
A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I [PDF]
Molecular Genetics and Metabolism Reports, 2020 Background: Citrullinemia type I (CTLN1, MIM #215700) is an autosomal recessive urea cycle disorder caused by deficiency of argininosuccinate synthase (ASS).
Eri Imagawa +2 more
doaj +2 more sources
Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review [PDF]
BMC Medical Genetics, 2019 Background Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the argininosuccinate synthetase (ASS1) enzyme due to mutations in the ASS1 gene.
Yiming Lin +8 more
doaj +2 more sources
Late-onset citrullinemia type I: A radiological mimic of herpes encephalitis
Journal of Pediatric Neurosciences, 2019 We describe a 10 year old boy who presented with acute onset rapidly progressing encephalopathy. MRI revealed bilateral insular cortex and basifrontal involvement suggesting Herpes encephalitis.
Razia A Kadwa +3 more
doaj +2 more sources