Early prediction of phenotypic severity in Citrullinemia Type 1 [PDF]
Annals of Clinical and Translational Neurology, 2019 Objective Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting the brain which is detectable by newborn screening. The clinical spectrum is highly variable including individuals with lethal hyperammonemic encephalopathy in the newborn
Matthias Zielonka +9 more
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Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report [PDF]
Clinical Practice and Cases in Emergency Medicine, 2023 Introduction: Citrullinemia type 1 (CTLN1) is a urea cycle disorder caused by defective argininosuccinate synthetase leading to impaired ammonia elimination.
Michael Borsuk +2 more
doaj +7 more sources
Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants [PDF]
Molecular Genetics & Genomic Medicine, 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.
Melissa Daou +9 more
doaj +6 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 +4 more sources
Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant
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
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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 +4 more sources
Nutritional Management in a Patient with Citrullinemia Type 1 [PDF]
Clinical Nutrition Research, 2021 For patients with citrullinemia type 1, nutritional management is essential to prevent the occurrence of complications associated with hyperammonemia. This report describes a patient who had been receiving nutrition intervention for more than 3 years. A newborn diagnosed with hyperammonemia due to citrullinemia visited Ajou University Hospital and was ...
Hyejin Kang, Mihyang Kim, Ji Hyun Lee
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Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation [PDF]
Cureus, 2021 Citrullinemia refers to a family of autosomal recessive disorders involving the urea cycle. Three forms exist, which have different implications. Type I citrullinemia exists in both mild and severe forms. It arises due to mutations with argininosuccinate synthase leading to accumulation of ammonia and producing symptoms of lethargy, poor feeding, and ...
Ruxmohan, Samir +4 more
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Clinical Case Reports, 2023 Key Clinical Message The perioperative control of ammonia, reduction of stress, and administration of drugs tolerated in type 1 citrullinemia and Brugada pattern allowed the successful and uneventful management of general anesthesia in the study patient.
Fabio Dell’Olio +8 more
doaj +3 more sources
Hyperkinetic Movements in an Infant with Citrullinemia Type 1 [PDF]
Annals of Child NeurologySomdattaa Ray
doaj +2 more sources