In 2012, we published guidelines summarizing and evaluating late 2011 evidence for
diagnosis and therapy of urea cycle disorders (UCDs). With 1: 35 000 estimated incidence …

Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis
due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one …

The urea cycle is the final pathway for removal of surplus nitrogen from the body, and the
major route in humans for detoxification of ammonia. The full complement of enzymes is …

Elevated blood ammonia (hyperammonemia) is believed to be a major contributor to the
neurological sequelae following severe liver disease. Ammonia is cleared via two main …

Celebrating more than twenty years as the single best source in the field, this Fifth Edition
has now expanded into two cornerstone volumes with 53 fully inclusive chapters and 73 …

Background Hyperammonemia caused by a disorder of the urea cycle is a rare cause of
metabolic encephalopathy that may be underdiagnosed by the adult intensivists because of …

N-acetylglutamate (NAG) is an endogenous essential cofactor for conversion of ammonia to
urea in the liver. Deficiency of NAG causes hyperammonemia and occurs because of …

Hyperammonemia is a true neonatal emergency with high toxicity for the central nervous
system and developmental delay. The causes of neonatal hyperammonemia are genetic …

This study was conducted with an ovine intrauterine growth restriction (IUGR) model to test
the hypothesis that dietary N-carbamylglutamate (NCG) and rumen-protected L-Arg (RP …

The ornithine transcarbamylase (OTC) gene is on the X chromosome and its product
catalyzes the formation of citrulline from ornithine and carbamylphosphate in the urea cycle …