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Quoted phrase not found in phrase index: "Citrullinemia, type II, adult-onset"
Page 1
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S, Lacabanne D, Thangaratnarajah C, Kunji ERS. Tavoulari S, et al. Trends Endocrinol Metab. 2022 Aug;33(8):539-553. doi: 10.1016/j.tem.2022.05.002. Epub 2022 Jun 17. Trends Endocrinol Metab. 2022. PMID: 35725541 Free PMC article. Review.
In this review, we describe the geological spread and occurrence of citrin deficiency, the metabolic consequences and use our current knowledge of the structure to predict the impact of the known pathogenic mutations on the calcium-regulatory and transport mechanism of cit …
In this review, we describe the geological spread and occurrence of citrin deficiency, the metabolic consequences and use our current knowle …
Chronic pancreatitis and pancreatic pseudocyst with adult-onset type II citrullinemia.
Kakiuchi T, Nakayama A, Akiyama T, Martsuo M. Kakiuchi T, et al. Clin J Gastroenterol. 2020 Feb;13(1):97-101. doi: 10.1007/s12328-019-01011-8. Epub 2019 Jun 29. Clin J Gastroenterol. 2020. PMID: 31256334
Owing to her difficulties in communication, although she had been taking a nutritionally balanced diet regardless of her preference, chronic pancreatitis and pancreatic stones had already been observed at the time of CTLN2 diagnosis at the age of 30 years. Three years late …
Owing to her difficulties in communication, although she had been taking a nutritionally balanced diet regardless of her preference, chronic …
Anesthetic experience of an adult male with citrullinemia type II: a case report.
Choi JJ, Kim HS, Lee KC, Shin Y, Jo YY. Choi JJ, et al. BMC Anesthesiol. 2016 Oct 11;16(1):92. doi: 10.1186/s12871-016-0253-7. BMC Anesthesiol. 2016. PMID: 27724842 Free PMC article.
In this patient, dietary planning with close monitoring of serum ammonia level and close observation of neurologic conditions might lead to successful perioperative care. ...
In this patient, dietary planning with close monitoring of serum ammonia level and close observation of neurologic conditions might l …
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK.
Pinto A, Ashmore C, Batzios S, Daly A, Dawson C, Dixon M, Evans S, Green D, Gribben J, Hunjan I, Jameson E, Newby C, Pierre G, Rajwal S, Robertson L, Santra S, Sharrard M, Vara R, White L, Wilcox G, Yilmaz O, MacDonald A. Pinto A, et al. Nutrients. 2020 Oct 29;12(11):3313. doi: 10.3390/nu12113313. Nutrients. 2020. PMID: 33137944 Free PMC article.
Twenty-five per cent (8/32) of patients were underweight and 41% (13/32) had height <-1 z-scores. CONCLUSIONS: patients presented with various phenotypes, symptoms and suboptimal growth. ...
Twenty-five per cent (8/32) of patients were underweight and 41% (13/32) had height <-1 z-scores. CONCLUSIONS: patients presented …
Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency.
Yau WW, Chen GB, Zhou J, Francisco JC, Thimmukonda NK, Li S, Singh BK, Yen PM. Yau WW, et al. Hum Mol Genet. 2023 May 18;32(11):1922-1931. doi: 10.1093/hmg/ddad018. Hum Mol Genet. 2023. PMID: 36881658 Free PMC article.
CITRIN KO cells also displayed increased cholesterol and bile acid metabolism resembling those observed in CD patients. Remarkably, normalizing cytosolic NADH:NAD+ ratio by nicotinamide riboside increased glycolysis and fatty acid oxidation but had no effect on the hyperam …
CITRIN KO cells also displayed increased cholesterol and bile acid metabolism resembling those observed in CD patients. Remarkably, n …
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia.
Hayasaka K, Numakura C, Yamakawa M, Mitsui T, Watanabe H, Haga H, Yazaki M, Ohira H, Ochiai Y, Tahara T, Nakahara T, Yamashiki N, Nakayama T, Kon T, Mitsubuchi H, Yoshida H. Hayasaka K, et al. J Inherit Metab Dis. 2018 Sep;41(5):777-784. doi: 10.1007/s10545-018-0176-1. Epub 2018 Apr 12. J Inherit Metab Dis. 2018. PMID: 29651749
Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Citrin deficiency is predicted to impair hepatic glycolysis and de novo lipogenesis, resulting in hepatic energy deficit. ...Histological improvement in the he …
Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Citrin deficiency is pr …
The characteristics of food intake in patients with type II citrullinemia.
Nakamura M, Yazaki M, Kobayashi Y, Fukushima K, Ikeda S, Kobayashi K, Saheki T, Nakaya Y. Nakamura M, et al. J Nutr Sci Vitaminol (Tokyo). 2011;57(3):239-45. doi: 10.3177/jnsv.57.239. J Nutr Sci Vitaminol (Tokyo). 2011. PMID: 21908947 Free article.
Commonly, fat intake declines with age in the general Japanese population, but this tendency was not observed in the 5 CTLN2 patients. The present results suggest that intakes of low-carbohydrate, high-protein and high-fat food was characteristic the 5 CTLN2 patients surve …
Commonly, fat intake declines with age in the general Japanese population, but this tendency was not observed in the 5 CTLN2 patients …
The diagnostic challenge of mild citrulline elevation at newborn screening.
Siri B, Olivieri G, Angeloni A, Cairoli S, Carducci C, Cotugno G, Di Michele S, Giovanniello T, La Marca G, Lepri FR, Novelli A, Rossi C, Semeraro M, Dionisi-Vici C. Siri B, et al. Mol Genet Metab. 2022 Apr;135(4):327-332. doi: 10.1016/j.ymgme.2022.02.008. Epub 2022 Feb 20. Mol Genet Metab. 2022. PMID: 35279366
However, the use of cut-off values in screening programmes has raised the issue about the interpretation of mild elevation of citrulline levels detected at NBS, below the usual range observed in the "classical/severe" forms of distal urea cycle disorders and in citrin defi …
However, the use of cut-off values in screening programmes has raised the issue about the interpretation of mild elevation of citrulline lev …
Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency.
Saheki T, Inoue K, Ono H, Fujimoto Y, Furuie S, Yamamura KI, Kuroda E, Ushikai M, Asakawa A, Inui A, Eto K, Kadowaki T, Moriyama M, Sinasac DS, Yamamoto T, Furukawa T, Kobayashi K. Saheki T, et al. Mol Genet Metab. 2017 Apr;120(4):306-316. doi: 10.1016/j.ymgme.2017.02.004. Epub 2017 Feb 14. Mol Genet Metab. 2017. PMID: 28259708
The double-KO mice showed clear suppressed intake of sucrose, consuming less with progressively higher concentrations compared to the other mice. Similar observations were made when glycerol or ethanol were given. The preference of Ctrn-KO and mGPD-KO mice varied with the …
The double-KO mice showed clear suppressed intake of sucrose, consuming less with progressively higher concentrations compared to the other …
Hypoketotic hypoglycemia in citrin deficiency: a case report.
Wada Y, Arai-Ichinoi N, Kikuchi A, Sakamoto O, Kure S. Wada Y, et al. BMC Pediatr. 2020 Sep 22;20(1):444. doi: 10.1186/s12887-020-02349-6. BMC Pediatr. 2020. PMID: 32962675 Free PMC article.
Although previous studies have reported ketosis in CD, it was observed at the time of euglycemia or mild hypoglycemia. Blood ketone levels concomitant with symptomatic or severe hypoglycemia in CD have not been a topic of focus despite its importance in identifying the eti …
Although previous studies have reported ketosis in CD, it was observed at the time of euglycemia or mild hypoglycemia. Blood ketone l …
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