Growth impairment in individuals with citrin deficiency
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12051
Abstract: Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), failure to thrive and dyslipidemia (FTTDCD), and adult‐onset type II citrullinemia (CTLN2). Owing to a defect in the NADH‐shuttle, citrin deficiency impairs hepatic glycolysis and de novo lipogenesis… read more here.
Keywords: growth impairment; growth; body; citrin deficiency ... See more keywords
Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.06.004
Abstract: Identification of the genes responsible for adult-onset type II citrullinemia (CTLN2) and citrin protein function have enhanced our understanding of citrin deficiency. Citrin deficiency is characterized by 1) neonatal intrahepatic cholestasis caused by citrin deficiency… read more here.
Keywords: adaptation; adaptation compensation; ctln2; citrin deficiency ... See more keywords
Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency
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DOI: 10.1093/hmg/ddad018
Abstract: Abstract Citrin deficiency (CD) is an inborn error of metabolism caused by loss-of-function of the mitochondrial aspartate/glutamate transporter, CITRIN, which is involved in both the urea cycle and malate–aspartate shuttle. Patients with CD develop hepatosteatosis… read more here.
Keywords: cell; glycolysis fatty; citrin deficiency; citrin ... See more keywords
Desflurane and remifentanil anesthesia in a child with citrin deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000028954
Abstract: 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.… read more here.
Keywords: desflurane remifentanil; citrin deficiency; deficiency; anesthesia ... See more keywords
Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2022-0616
Abstract: Abstract Objectives Citrin deficiency (CD) is an autosomal recessive disease caused by mutations of the SLC25A13 gene, plasma bile acid profiles detected by liquid chromatography-tandem mass spectrometry (LC-MS/MS) could be an efficient approach for early… read more here.
Keywords: cholestasis; plasma bile; citrin deficiency; intrahepatic cholestasis ... See more keywords
Food Preferences of Patients with Citrin Deficiency
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DOI: 10.3390/nu13093123
Abstract: Citrin deficiency is characterized by a wide range of symptoms from infancy through adulthood and presents a distinct preference for a diet composed of high protein, high fat, and low carbohydrate. The present study elucidates… read more here.
Keywords: energy; food preferences; citrin deficiency; patients citrin ... See more keywords