Cargando…

Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia

Adult-onset citrullinaemia type II (CTLN2) is a rare disease in Chinese patients. As a subtype of citrin deficiency (CD), it is an autosomal recessive disease related to the SLC25A13 mutation on chromosome 7q21.3. In this study, we report a case of CTLN2 presenting with paroxysmal altered consciousn...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Pingrun, Gao, Xin, Chen, Bin, Zhang, Yan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	De Gruyter 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005779/ https://www.ncbi.nlm.nih.gov/pubmed/33817322 http://dx.doi.org/10.1515/med-2021-0235

Ejemplares similares

Diabetic Foot Caused by Pancreatic Diabetes with Adult-Onset Type II Citrullinaemia
por: Sato, Tomotaka, et al.
Publicado: (2023)

Liver Transplantation in an Adult with Citrullinaemia Type 2
por: Tan, Hui-Hui, et al.
Publicado: (2011)

A rare characteristic neuroimaging pattern in hyperammonaemia
por: Kinney, MO, et al.
Publicado: (2017)

Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients
por: Bélanger-Quintana, Amaya, et al.
Publicado: (2022)

ODP284 Hyperinsulinism-Hyperammonaemia syndrome: a dive into the rare presentation and diagnostic challenges encountered in adults
por: Ghaith, Sarah, et al.
Publicado: (2022)

Primary Hyperammonaemia: Current Diagnostic and Therapeutic Strategies
por: Häberle, Johannes
Publicado: (2020)

Risk factors and outcome of hyperammonaemia in people with epilepsy
por: Vakrinou, Angeliki, et al.
Publicado: (2022)

The effect of induced hyperammonaemia on sleep and melanopsin-mediated pupillary light response in patients with liver cirrhosis: A single-blinded randomized crossover trial
por: Kann, Anna Emilie, et al.
Publicado: (2022)

Continuous renal replacement therapy and its impact on hyperammonaemia in acute liver failure
por: Warrillow, Stephen, et al.
Publicado: (2023)

Late-onset MADD: a rare cause of cirrhosis and acute liver failure?
por: Soldath, Patrick, et al.
Publicado: (2020)

Encephalopathy, lactic acidosis, hyperammonaemia and 5-fluorouracil toxicity.
por: Valik, D.
Publicado: (1998)

Hyperammonaemia induces mitochondrial dysfunction and neuronal cell death
por: Angelova, Plamena R., et al.
Publicado: (2022)

Protective effect of Lactobacillus salivarius Li01 on thioacetamide‐induced acute liver injury and hyperammonaemia
por: Yang, Liya, et al.
Publicado: (2020)

Long-term outcome of a child with hyperinsulinism- hyperammonaemia syndrome
por: Yau, HC, et al.
Publicado: (2013)

On a remarkable syndrome of cerebral atrophy associated with hyperammonaemia in childhood
por: Rett, Andreas
Publicado: (2016)

Role of early management of hyperornithinaemia‐hyperammonaemia‐homocitrullinuria syndrome in pregnancy
por: Billingham, Matthew James, et al.
Publicado: (2021)

Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency
por: Stockdale, Christopher, et al.
Publicado: (2022)

A dialysis patient with hyperammonaemia: inferior mesenteric-caval shunt as a cause of portal-systemic encephalopathy
por: Izumiya-Iwai, Tamaki, et al.
Publicado: (2011)

Drug-associated hyperammonaemia: a Bayesian analysis of the WHO Pharmacovigilance Database
por: Balcerac, Alexander, et al.
Publicado: (2022)

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories
por: Häberle, Johannes, et al.
Publicado: (2018)

A rare cause of hypoxia in a patient with liver cirrhosis
por: Singh, Amita, et al.
Publicado: (2012)

Cryptococcus: A Rare Cause of Parotid Abscess in Liver Cirrhosis
por: Okamoto, Takeshi, et al.
Publicado: (2020)

High-dose 5-fluorouracil infusional therapy is associated with hyperammonaemia, lactic acidosis and encephalopathy.
por: Yeh, K. H., et al.
Publicado: (1997)

Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations
por: Kapoor, Ritika R, et al.
Publicado: (2009)

The metabolic and molecular mechanisms of hyperammonaemia‐ and hyperethanolaemia‐induced protein catabolism in skeletal muscle cells
por: Crossland, Hannah, et al.
Publicado: (2018)

Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy
por: Raina, Rupesh, et al.
Publicado: (2020)

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias
por: Chakrapani, Anupam, et al.
Publicado: (2018)

Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey
por: Meydan, Hasan, et al.
Publicado: (2010)

Cirrhosis of the Liver in the Adult
por: Gharpure, P. V.
Publicado: (1947)

Some classes of singular integral equations of convolution type in the class of exponentially increasing functions
por: Li, Pingrun
Publicado: (2017)

Wohlfahrtiimonas chitiniclastica: A rare infection reported in an adult with liver cirrhosis
por: Kozyk, Marko, et al.
Publicado: (2023)

A Rare Case of Disseminated Histoplasmosis in an Adult With Alcoholic Liver Cirrhosis
por: Kozyk, Marko, et al.
Publicado: (2023)

Imaging of extrapontine myelinolysis preceding central pontine myelinolysis in a case of ornithine transcarbamylase deficiency with hyperammonaemia and hypokalaemia
por: Tanaka, Yuya, et al.
Publicado: (2022)

Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia
por: Kim, Bum Soo, et al.
Publicado: (2011)

Liver cirrhosis caused by chronic Budd–Chiari syndrome
por: Lin, Mengjie, et al.
Publicado: (2017)

Rifaximin as a rare cause of rhabdomyolysis in cirrhosis
por: Rezigh, Alec B., et al.
Publicado: (2018)

CIRRHOSIS OF THE LIVER CAUSED BY EXCESS DIETARY CYSTINE
por: Earle, David P., et al.
Publicado: (1941)

Progressive Familial Intrahepatic Cholestasis: A Rare Cause of Cirrhosis in Young Adult Patients
por: Sun, Gavin R., et al.
Publicado: (2015)

Sensitivity of the Natriuretic Peptide/cGMP System to Hyperammonaemia in Rat C6 Glioma Cells and GPNT Brain Endothelial Cells
por: Regan, Jacob T., et al.
Publicado: (2021)

Impaired Expression of Type I and Type II Interferon Receptors in HCV-Associated Chronic Liver Disease and Liver Cirrhosis
por: Chandra, Partha K., et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_p7k0lau171f6917ceqb0pv9c55