Citrullinemia type I (CTLN-I) results from the absence or deficiency of argininosuccinate synthetase (AS), a 46 kDa enzyme that acts in cytosol hepatocytes to convert aspartic acid and citrulline into argininosuccinic acid. AS is an essential component urea cycle, its harmful accumulation ammonia blood cerebrospinal fluid. No disease-modifying treatment CTLN-I exists. Here we report cell-permea...

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...

cytokines or tumor-related proteins) which circulate in the bloodstream, affecting the function of other tissues at a site distant from the tumor origin. The prevalence of HCC-related paraneoplastic erythrocytosis ranges from 1% to 3%.[1,2] The underlying pathophysiology of HCCrelated paraneoplastic erythrocytosis is multifactorial. Firstly, local hypoxia from focal hepatic tumor necrosis leads...

BACKGROUND Acute increases in nasal resistance are known to induce upper airway occlusion in predisposed subjects. With the limited efficacy of nasal surgery alone in the treatment of obstructive sleep apnea (OSA), the relevance of chronically increased nasal resistance in the pathophysiologic features of OSA remains undetermined. METHODS Seventy-one patients with OSA (apnea+hypopnea index > ...

A screening was carried out for CVM, BLAD, DUMPS, bovine citrullinaemia, glycogen storage disease V, and Robertsonian translocations in the cattle population of the Czech Republic. In 406 Holstein sires and 146 Czech Pied (Czech Simmental) sires entering the AI programme in the Czech Republic from 2003–2005, no heterozygous sire for DUMPS, bovine citrullinaemia and BLAD was found. The heterozyg...

Background: Citrullinemia type I (CTLN1) is a rare autosomal recessive inborn error of the urea cycle caused by mutations in gene encoding arginosuccinate synthetase (ASS1) enzyme. Classic CTLN1 often manifests with acute hyperammonemia and neurological symptoms. Molecular genetic testing critical for patient diagnosis. Methods: Three unrelated families clinically suspected were included this s...