Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD) [PDF]
JIMD ReportsBoth 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
Hoi‐Yin Chan +9 more
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First manifestation of citrullinemia type I as Sandifer syndrome [PDF]
The Turkish Journal of Pediatrics, 2017 We report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis.
Mustafa Kılıç +5 more
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Visualization of argininosuccinate synthetase by in silico analysis: novel insights into citrullinemia type I disorders [PDF]
Frontiers in Molecular BiosciencesBackgroundCitrullinemia type I disorders (CTLN1) is a genetic metabolic disease caused by argininosuccinate synthetase (ASS1) gene mutation. To date, the human genome mutation database has documented over 100 variants of the ASS1 gene.
Xia Gu +13 more
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Urea Cycle Disorders in Neonates: Six Case Reports
Journal of Pediatric Research, 2017 Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation. In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases)
Kıymet Çelik +7 more
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High Blood Pressure in a Urea Cycle Disorder: Case Report
American Journal of Perinatology Reports, 2020 Introduction Urea cycle disorders (UCDs) form a group of metabolic pathological conditions that might develop serious neurological consequences. Early diagnosis, before irreversible damage is established, is the most important prognostic and morbidity ...
Carolina Solé +2 more
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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
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Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study [PDF]
Frontiers in PediatricsBackgroundSeveral inherited metabolic disorders (IMDs) require intensive and continuous nutritional management, particularly during the first year of life.
Veronica Maria Tagi +18 more
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A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China [PDF]
International Journal of Neonatal ScreeningAmino acid metabolic disorders (AAMs) are a group of inherited metabolic diseases caused by defects in enzymes or transporters involved in amino acid metabolism.
Qiongfang Yao +9 more
doaj +2 more sources
Case Report: From coma to genetic insights: identification of a novel pathogenic variant in Chinese neonatal CTLN1 [PDF]
Frontiers in PediatricsCitrullinemia type I (CTLN1) is an autosomal recessive disorder caused by variants in the arginine succinate synthase gene (ASS1). These variants result in arginine succinate synthase deficiency, leading to a disruption of the urea cycle and ...
Lijing Deng +6 more
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Early-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening—Insights from Emilia-Romagna (Italy) [PDF]
ChildrenBackground: Expanded Newborn Screening (ENS) allows the early identification of many inherited metabolic diseases (IMDs) for which timely treatment can modify the natural history. For most IMDs, diagnosis by ENS is pre-clinical.
Giulia Montanari +6 more
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