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 …

Patients experiencing acute elevations of ammonia present to the ICU with encephalopathy,
which may progress quickly to cerebral herniation. Patient survival requires immediate …

Replication deficient, recombinant adenovirus (Ad) vectors do not require target cell
replication for transfer and expression of exogenous genes and thus may be useful for in …

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 …

Inborn errors of metabolism (IEMs) may present in adolescence or adulthood as a
psychiatric disorder. In some instances, an IEM is suspected because of informative family …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset disease
in males (but rarely in females) and as a post-neonatal-onset (also known as" late-onset" or …

The clinical syndrome of encephalopathy is most often encountered in the context of
decompensated liver disease and the diagnosis is usually clear cut. Non-hepatic causes of …

The changes in mental status during cerebral malaria, heat stroke, and recovery from major
surgery are clinically similar, and are associated with high circulating concentrations of …

Ammonia is produced continuously in the body. It crosses the blood–brain barrier readily
and at increased concentration it is toxic to the brain. A highly integrated system protects …