Results 41 to 50 of about 451,717 (162)
Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case. [PDF]
JIMD RepABSTRACT Dual inherited defects affecting urea cycle function are exceptionally rare. We report the first case, to our knowledge, of the coexistence of argininosuccinic aciduria (ASA) and citrin deficiency (CD). A girl born to consanguineous Tunisian parents presented at 6 months of age with recurrent seizures, vomiting, developmental delay, and severe
Zribi M +6 more
europepmc +2 more sources
The therapeutic landscape of citrin deficiency. [PDF]
J Inherit Metab DisAbstractCitrin deficiency (CD) is a recessive, liver disease caused by sequence variants in the SLC25A13 gene encoding a mitochondrial aspartate–glutamate transporter. CD manifests as different age‐dependent phenotypes and affects crucial hepatic metabolic pathways including malate–aspartate‐shuttle, glycolysis, gluconeogenesis, de novo lipogenesis and
Vuković T +4 more
europepmc +3 more sources
Pathogenesis and Management of Citrin Deficiency. [PDF]
Intern MedCitrin deficiency (CD) is a hereditary disorder caused by SLC25A13 mutations that manifests as neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive and dyslipidemia caused by CD (FTTDCD), and adult-onset type 2 citrullinemia (CTLN2).
Hayasaka K.
europepmc +3 more sources
Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan [PDF]
, 2022 Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene. The disease can present with age-dependent clinical manifestations: neonatal intrahepatic cholestasis by citrin deficiency (NICCD), failure to thrive, and ...
Masayoshi Nagao +27 more
core +3 more sources
Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant
Chinese Medical Journal, 2015 To the Editor: Tandem mass spectrometry (MS/MS)-based expanded newborn screening was first introduced in Pediatric Endocrinology/Genetics of Xin Hua Hospital in 2003. The screening is expected to detect genetic disorders leading to a secondary increase in blood phenylalanine (Phe) in newborns.[1] We reported a rare case in a Chinese infant with ...
Jun Ye +4 more
doaj +2 more sources
Desflurane and remifentanil anesthesia in a child with citrin deficiency: A case report. [PDF]
Medicine (Baltimore), 2022 Abstract Rationale: Hyperammonemia, metabolic derangement, and/or the prolonged effects of anesthetics may lead to delayed emergence from general anesthesia as well as the onset of type 2 citrullinemia, even in compensated patients with citrin deficiency.
Kim K, Jung SM.
europepmc +3 more sources
Effects of Citrin Deficiency in the Perinatal Period: Feasibility of Newborn Mass Screening for Citrin Deficiency [PDF]
Pediatric Research, 2004 Deficiency of citrin due to mutations of the SLC25A13 gene causes adult-onset type II citrullinemia (CTLN2) and one type of neonatal intrahepatic cholestasis (NICCD). About half of the NICCD patients are detected based on high galactose, phenylalanine, and/or methionine concentrations on newborn mass screening (NMS).
Akiko, Tamamori +23 more
openaire +2 more sources
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK [PDF]
Nutrients, 2020 Spyros Batzios +2 more
exaly +2 more sources
Frontiers in Pediatrics, 2022 Inborn errors of metabolism (IEMs) are strongly related to abnormal growth and development in newborns and can even result in death. In total, 94,648 newborns were enrolled for expanded newborn screening using tandem mass spectrometry (MS/MS) from 2016 ...
Muping Zhou +7 more
doaj +1 more source
Frontiers in Genetics, 2019 Sodium taurocholate cotransporting polypeptide (NTCP), a carrier protein encoded by the gene SLC10A1, is expressed in the basolateral membrane of the hepatocyte to uptake bile acids from plasma.
Hui Lin +7 more
doaj +1 more source