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 …

Protein replacement therapy is an umbrella term used for medical treatments that aim to
substitute or replenish specific protein deficiencies that result either from the protein being …

Ornithine transcarbamylase (OTC) plays a significant role in the urea cycle, a metabolic
pathway functioning in the liver to detoxify ammonia. OTC deficiency (OTCD) is the most …

Deleterious mutations in the X-linked gene encoding ornithine transcarbamylase (OTC)
cause the most common urea cycle disorder, OTC deficiency. This rare but highly actionable …

Ornithine is a non-essential amino acid produced as an intermediate molecule in urea cycle.
It is a key substrate for the synthesis of proline, polyamines and citrulline. Ornithine also …

Ornithine transcarbamylase (OTC; EC 2.1. 3.3) is a ubiquitous enzyme found in almost all
organisms, including vertebrates, microorganisms, and plants. Anabolic, mostly trimeric …

Acute hyperammonemia may induce a neurologic impairment leading to an acute life-
threatening condition. Coma duration, ammonia peak level, and hyperammonemia duration …

Urea cycle defects (UCDs) are severe inherited metabolic diseases with high unmet needs
which present a permanent risk of hyperammonaemic decompensation and subsequent …

The identification of mosaicism is important in establishing a disease diagnosis, assessing
recurrence risk, and genetic counseling. Next-generation sequencing (NGS) with deep …

Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are
caused by mutations in the specific genes that lead to impaired proteins or enzymes …