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]
International Journal of Reproductive BioMedicine, 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.
Maryam Hassanlou +2 more
doaj +3 more sources
Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice [PDF]
International Journal of Molecular Sciences, 2022 Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder caused by mutations in the gene encoding argininosuccinate synthetase 1 (ASS1) that catalyzes the third step of the urea cycle. CTLN1 patients suffer from impaired elimination of nitrogen, which leads to neurotoxic levels of circulating ammonia and urea cycle byproducts that may cause ...
Bazo, Andrea +10 more
europepmc +6 more sources
Citrullinemia type 1: Genetic diagnosis and prenatal diagnosis in subsequent pregnancy [PDF]
Indian Pediatrics, 2013 Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. Both parents were identified to be carriers for the exon 15 p Gly390Arg mutation in the argininosuccinate synthetase gene located at chromosome 9q34.1.
Karthikeyan, G +3 more
openaire +5 more sources
Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations [PDF]
JIMD Reports, 2022 Citrullinemia type 1 is an autosomal recessive metabolic disease caused by ASS1 gene mutations encoding argininosuccinic acid synthetase enzyme which is within the pathway of arginine and nitric oxide biosynthesis.
Shirin Moarefian +4 more
doaj +2 more sources
Identification of three novel mutations in fourteen patients with citrullinemia type 1
Clinical Biochemistry, 2017 Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASS1) gene, which encodes for the argininosuccinate synthetase enzyme. Here, we report genetic and clinical characterizations of 14 patients with citrullinemia type 1.The study group consisted of 14 patients (4 females, 10 ...
Kose, Engin +5 more
openaire +6 more sources
A rare case of type 1 citrullinemia in newborn
International Journal of Contemporary Pediatrics, 2022 Citrullinemia type I (CTLN1) is a rare and lethal autosomal recessive genetic disorder. CTLN1 is caused by deficiency or absence of the enzyme arginino succinate synthetase (ASS). We reported a rare case of CTLN1 in a male full-term neonate. This report related to a full-term male child, born out of 3rd degree consanguineous marriage, admitted at our ...
Ashutosh Singh Rathore +2 more
openaire +2 more sources
ASS1 gene mutation in a neonate with citrullinemia type Ⅰ [PDF]
Jichu yixue yu linchuang, 2020 Objective To detect blood acylcarnitine and genes in a newborn with suspected citrullinemia, and to detect gene mutations in their parents, so as to clarify their diagnosis and follow-up investigations.
LYU Ya-nan, SONG Dong-po, WANG Wei-qing, CHEN Yan-ping
doaj +1 more source
Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD). [PDF]
JIMD RepABSTRACT Both citrin deficiency (CD) and citrullinemia type I (CTLN1) may be detected by elevated citrulline through newborn screening (NBS) or present as acute liver failure in later infancy, but they differ significantly in management. This may pose therapeutic challenges in the early period after presentation while awaiting diagnostic confirmation ...
Chan HY +9 more
europepmc +2 more sources
SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening [PDF]
Molecular Genetics and Metabolism Reports, 2021 Summary: We describe a case of a 21 years old woman affected by Citrullinemia type 1- Arginosuccinate Synthase deficiency (ASSD)-who underwent a SARS CoV2 infection during the first phase of pandemic burst in Italy. She had no symptoms of infection nor a
N. Vitturi +4 more
doaj +2 more sources
Citrullinemia type 1 manifesting with a stroke-like episode: a case report [PDF]
Oxford Medical Case ReportsAbstract Citrullinemia type 1 (CTLN1) is a rare inherited disorder caused by mutations in the argininosuccinate synthetase 1 (ASS1) gene, disrupting the urea cycle and leading to toxic ammonia accumulation. It typically presents in newborns with lethargy, vomiting, and poor feeding. Stroke-like neurological presentations are very rare.
Alaa Zayed +3 more
openaire +4 more sources