Cholestatic Liver Failure and Hypoglycemia in a Newborn: A Mitochondrial Pathology due to Citrin Deficiency [PDF]
Clinical Case ReportsIn an infant with cholestasis and recurrent hypoglycemia, the combination of hypercitrullinemia, hypermethioninemia, and hyperthreoninemia should prompt testing for citrin deficiency, because early metabolic and genetic diagnosis allows targeted ...
Julien Neveu +4 more
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Molecular Genetics and Metabolism Reports, 2018 Background and objectives: This retrospective study analysed a case series of subjects with citrin deficiency, and aims to present the molecular and clinical characterization of this disease in the Hong Kong Chinese population for the first time ...
S.C. Chong +7 more
doaj +4 more sources
AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures [PDF]
Biomolecules, 2020 Can you imagine a disease in which intake of an excess amount of sugars or carbohydrates causes hyperammonemia? It is hard to imagine the intake causing hyperammonemia.
Takeyori Saheki +3 more
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Long-term follow-up of neurocognitive function in patients with citrin deficiency and cholestasis [PDF]
Clinical and Experimental PediatricsBackground Citrin deficiency is a rare metabolic disorder prevalent in East and Southeast Asia that affects liver or neurological function throughout various life stages. While early diagnosis and dietary management can improve prognosis for infant onset
Meng-Ju Melody Tsai +8 more
doaj +4 more sources
Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening [PDF]
Molecular Genetics and Metabolism Reports, 2022 Citrin deficiency belongs to a group of urea cycle disorders that can be identified during newborn screening by measuring citrulline, phenylalanine, methionine, and galactose levels.
Toshihiro Suzuki +4 more
doaj +2 more sources
Adult onset episodic encephalopathy due to citrin deficiency—A case report [PDF]
Annals of Indian Academy of Neurology, 2023 Hyperammonemia is a rare cause of adult episodic encephalopathy. Citrin deficiency resulting in citrullinemia type 2 (CTLN2) can lead to recurrent delirium in adults.
Dipti Baskar +11 more
doaj +2 more sources
A pediatric case of citrin deficiency presenting with recurrent hypertriglyceridemic pancreatitis-a case report [PDF]
Frontiers in PediatricsCitrin deficiency (CD) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the SLC25A13 gene, which encodes the mitochondrial aspartate-glutamate carrier 2, also known as citrin.
Ruyi Ye +7 more
doaj +2 more sources
Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes [PDF]
Jornal de PediatriaObjective: Citrin deficiency (CD) is an autosomal recessive disease caused by mutations in the SLC25A13 gene. This study aimed to expand the current body of data on Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency ...
Lingli Chen +5 more
doaj +2 more sources
Obstacles to home-based dietary management for caregivers of children with citrin deficiency: a qualitative study [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Dietary management is the most important and effective treatment for citrin deficiency, as well as a decisive factor in the clinical outcome of patients.
Shuxian Zhang +7 more
doaj +2 more sources
Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency [PDF]
Frontiers in Pediatrics, 2023 BackgroundNeonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common clinical phenotype of citrin deficiency in infants. Its phenotype is atypical, so genetic testing is quite necessary for the diagnosis.Case presentationWe report ...
Kena Wang +5 more
doaj +2 more sources