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Citrullinemia type I
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
There is another monogenic metabolic disease which leads to elevated levels of citrulline, caused by deficiency of the amino acid transporter citrin (also called citrullinemia type 2). It is common in East Asians and usually presents in adults with hyperammonemia and neuropsychiatric disease. It may also cause neonatal/infantile cholestatic liver disease without hyperammonemia which is mostly transient. In adult-onset citrin deficiency, plasma ammonium concentrations are “only” about 5- to 10-fold elevated during acute episodes, and citrulline concentrations are approximately elevated 20-fold. Interestingly, arginine concentrations are normal to mildly increased rather than decreased due to the fact that argininosuccinate synthetase is also expressed in the small intestine and the kidney. These two organs are the main sources of arginine synthesis and are not affected in citrin deficiency.
Amino acid disorders and urea cycle disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
The severity of the disorder and the age of onset vary from one individual to another. Individuals who have a severe form of citrullinaemia often present with symptoms soon after birth. These can include refusal to feed, vomiting, lethargy, irritability, a lack of muscle tone (hypotonia), an enlarged liver (hepatomegaly), breathing difficulties, seizures and the accumulation of fluid in the brain (cerebral oedema). Individuals with this disorder may progress to coma due to high ammonia levels in the blood.
Severity scoring systems for radiation-induced GI injury – prioritization for use of GI-ARS medical countermeasures
Published in International Journal of Radiation Biology, 2023
Doreswamy Kenchegowda, David L. Bolduc, Lalitha Kurada, William F. Blakely
Seminal studies establishing the use of plasma citrulline as a biomarker of radiation-induced GI injury were performed by Lutgens and colleagues. These authors showed that in mice following TBI, there was a radiation time- and dose-dependent decrease in plasma citrulline levels with a statistically significant radiation-dose citrulline-response relationship occurring at 84-h post-irradiation. At this time interval post-irradiation, the citrullinemia significantly correlated with both jejunal crypt regeneration and the measured circumference of the epithelial surface lining. They also measured citrulline in patients undergoing abdominal fractionated radiotherapy and found significant decreases as a function of total radiation dose, the volume of bowel treated, and the clinical toxicity grading (Lutgens et al. 2003, 2004; Lutgens and Lambin 2007).
Is it time to reconsider prophylactic antimicrobial use for hematopoietic stem cell transplantation? a narrative review of antimicrobials in stem cell transplantation
Published in Expert Review of Anti-infective Therapy, 2021
Dilshad Jahan, Ed Peile, Md Arif Sheikh, Salequl Islam, Sharlene Parasnath, Paras Sharma, Katia Iskandar, Sameer Dhingra, Jaykaran Charan, Timothy Craig Hardcastle, Nandeeta Samad, Tajkera Sultana Chowdhury, Siddhartha Dutta, Mainul Haque
Adding to the evidence that empirical antimicrobial prophylaxis should be avoided in HSCT was a prospective study designed to identify intestinal mucositis’s effect by measuring plasma citrulline and neutropenia on the systemic inflammatory response (C-reactive protein) and the occurrence of BSI among two different groups of HSCT patients. This study revealed that severe intestinal mucositis, i.e. citrullinemia below 10 μmol/L, is a more accurate diagnostic marker than neutropenia to determine BSI’s risk [297]. Subsequently, multiple studies confirmed that citrulline appears to be an improved biomarker to detect GI mucositis [298,299]. Research studies note that HSCT prognosis improved without the administration of fluoroquinolones and fluconazole prophylaxis [127]. Other studies revealed the superiority of alternative strategies for stem cell transplanted patients, such as using non-absorbable antimicrobials such as rifaximin, fecal microbiota transplant (FMT) probiotics [7,127,172,300]. HSCT patients who are more prone to develop infections have genetic polymorphisms. Some of these polymorphisms in immunomodulatory genes have been linked to a high tendency to develop microbial infections among HSCT patients [301].
Inherited hyperammonemias: a Contemporary view on pathogenesis and diagnosis
Published in Expert Opinion on Orphan Drugs, 2018
Evelina Maines, Giovanni Piccoli, Antonia Pascarella, Francesca Colucci, Alberto B. Burlina
Hyperammonemia due to defects in ammonia detoxification is usually differentiated in two types. Primary hyperammonemia is due to loss-of-function defects of any of the urea cycle enzymes. These comprise three mitochondrial enzymatic defects (carbamoylphosphate synthetase 1 deficiency [CPS1D, OMIM #237300], ornithine transcarbamylase deficiency [OTCD, OMIM #311250], N-acetylglutamate synthase deficiency [NAGSD, OMIM #237310]), three cytosolic enzymatic defects (citrullinemia type 1 or argininosuccinate synthetase deficiency [ASSD, OMIM #215700], argininosuccinic aciduria or argininosuccinate lyase deficiency [ASLD, OMIM #207900], arginase 1 deficiency or argininemia [ARG1D, OMIM #207800]), and two mitochondrial transport defects (hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [HHH, OMIM #238970]) and citrullinemia type 2 or citrin deficiency (Citrin-D, OMIM #605814 and #603471) [4,5].