Background: Arginine is an amino acid determinant in the metabolic, immune and reparative responses to severe trauma. The present study aims to determine argininemia and plasma arginine bioavailability (PAB) in critical trauma patients and to analyze its correlation with prognosis.
Methods: A prospective study of 23 critical trauma patients was undertaken. Aminoacidemias were determined, by ion exchange chromatography, at admission and in the first and third days and compared with those of 11 healthy individuals. PAB was calculated. Severity indexes and outcome parameters were recorded.
Results: Values of argininemia, citrullinemia and ornithinemia at the admission were significantly lower than those of the controls (arginine: 41.2 ± 20.6 versus 56.1 ± 11.9 μmol/L, P = 0.034). Hipoargininemia (<60 μmol/L) prevalence was 82.6 %. Mean PAB was 62.4 ± 25.6 %. Argininemia < 26 μmol/L constituted a significant predictive factor of in-hospital mortality [n = 4 (17.4 %); 75 versus 15.8 %, P = 0.04; odds ratio = 4.7; accuracy = 87 %] and lower actuarial survival (63.5 ± 43.9 versus 256.1 ± 33.3 days, P = 0.031). PAB <42 % [n = 6 (26.1 %)] was associated with higher lactacidemia levels (P = 0.033), higher in-hospital mortality (66.7 versus 11.8 %, P = 0.021; odds ratio = 5.7, accuracy = 82.6 %) and lower actuarial survival (87.2 ± 37.5 versus 261.4 ± 34.7 days, n.s.). Probability of in-hospital mortality was inversely and significantly related with PAB [61.8 ± 8.8 % (95 % CI 50.8-72.7) when PAB <41 % and 2.8 ± 1.9 % (95 % CI 1.9-8.3) when PAB > 81 %, P = 0.0001]. Charlson's index ≥1, APACHE II ≥19.5, SOFA ≥7.5, and glutaminemia < 320 μmol/L were also predictive factors of actuarial survival.
Conclusions: Those results confirm the high prevalence of arginine depletion in severe trauma patients and the relevance of argininemia and PAB as predictive factors of mortality in this context.
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http://dx.doi.org/10.1186/s12986-016-0118-6 | DOI Listing |
Epileptic Disord
August 2023
R Madhavan Nayar Centre for Comprehensive Epilepsy Care, Sree Chitra Tirunal Institute for Medical Sciences & Technology, Thiruvananthapuram, India.
Arginase deficiency, which leads to hyperargininaemia is a rare urea cycle disorder caused by a mutation in the ARG1 gene. It is an under-recognized cause of pediatric developmental epileptic encephalopathy, with the key coexistent clinical features being developmental delay or regression and spasticity. Detection of ARG1 gene mutation on genetic testing is the confirmatory diagnostic test.
View Article and Find Full Text PDFBackground: Arginase 1 Deficiency (ARG1-D) is a rare autosomal recessive urea cycle disorder (UCD) characterized by pathologic elevation of plasma arginine and debilitating manifestations. Based on clinical commonalities and low disease awareness, ARG1-D can be diagnosed as hereditary spastic paraplegia (HSP), leading to treatment delays.
Cases: A Hispanic woman with unremarkable medical history experienced progressive lower-limb spasticity in her 20s and received a diagnosis of HSP.
Individuals suspected of or diagnosed with a rare disorder, including inherited metabolic disorders (IMD), often need frequent and/or urgent vascular access for blood draws and treatment, making central indwelling catheters commonly used devices in this patient population. These indwelling catheters are prone to thrombosis, limiting vascular access. This complication is frequently resolved with the use of altepase, a recombinant tissue plasminogen activator (tPA).
View Article and Find Full Text PDFJ Inherit Metab Dis
January 2023
David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Arginase 1 Deficiency (ARG1-D) is a rare urea cycle disorder that results in persistent hyperargininemia and a distinct, progressive neurologic phenotype involving developmental delay, intellectual disability, and spasticity, predominantly affecting the lower limbs and leading to mobility impairment. Unlike the typical presentation of other urea cycle disorders, individuals with ARG1-D usually appear healthy at birth and hyperammonemia is comparatively less severe and less common. Clinical manifestations typically begin to develop in early childhood in association with high plasma arginine levels, with hyperargininemia (and not hyperammonemia) considered to be the primary driver of disease sequelae.
View Article and Find Full Text PDFMol Genet Metab
October 2022
Division of Medical Genetics and Genomics in the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Background: Arginase 1 Deficiency (ARG1-D) is a rare, progressive, metabolic disorder that is characterized by devastating manifestations driven by elevated plasma arginine levels. It typically presents in early childhood with spasticity (predominately affecting the lower limbs), mobility impairment, seizures, developmental delay, and intellectual disability. This systematic review aims to identify and describe the published evidence outlining the epidemiology, diagnosis methods, measures of disease progression, clinical management, and outcomes for ARG1-D patients.
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