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 activity of metabolic enzymes is controlled by three principle levels: the amount of
enzyme, the catalytic activity, and the accessibility of substrates. Reversible lysine …

Ornithine transcarbamylase deficiency (OTCD) is an inborn error of urea synthesis that has
been considered as a model for liver-directed gene therapy. Current treatment has failed to …

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 …

Most patients with urea cycle disorders who present as neonates, do so with deteriorating
feeding, drowsiness and tachypnoea, following a short initial period when they appear well …

Inborn errors of metabolism are characterized by dysregulation of the metabolic networks
that underlie development and homeostasis, and constitute an important and expanding …

To address the current role of liver transplantation (LT) for urea cycle disorders (UCDs), we
reviewed the worldwide English literature on the outcomes of LT for UCD as well as 13 of …

Several recent reviews describe the management of urea cycle disorders. There is much
agreement on diet, alternative pathway therapy, maintenance of arginine and ornithine …

Forty‐six pediatric patients who underwent living donor liver transplantation (LDLT) using
parental liver grafts for inheritable metabolic disorders (IMD) were evaluated to determine …