CTLN2
The diagnosis of CTLN2 was confirmed by elevations of plasma citrulline level (384.3 nmol/mL; normal 17-43 nmol/mL) and serum pancreatic secretory trypsin inhibitor (PSTI) (110 ng/mL; normal 4.6-12.2 ng/mL), decrease in hepatic argininosuccinate synthetase activity (5.5% of control), lack of hepatic citrin protein expression and mutations in SLC25A13 gene (compound heterozygote with S225X and Ex1-1G>A).
The diagnosis of <span class="disease" id="16449956-7-17-22">CTLN2</span> was confirmed by elevations of plasma citrulline level (384.3 nmol/mL; normal 17-43 nmol/mL) and serum pancreatic secretory trypsin inhibitor (PSTI) (110 ng/mL; normal 4.6-12.2 ng/mL), decrease in hepatic argininosuccinate synthetase activity (5.5% of control), lack of hepatic <span class="gene" id="16449956-7-301-307">citrin</span> protein expression and mutations in <span class="gene" id="16449956-7-344-352">SLC25A13</span> gene (compound heterozygote with S225X and Ex1-1G&gt;A).