Ornithine transcarbamylase (OTC) (also called ornithine carbamoyltransferase) is an enzyme (EC 2.1.3.3) that catalyzes the reaction between carbamoyl phosphate (CP) and ornithine (Orn) to form citrulline (Cit) and phosphate (P i). There are two classes of OTC: anabolic and catabolic.

Feb 26, 2024 · Ornithine transcarbamylase deficiency (OTCD) is a hereditary metabolic disorder and the most common urea cycle disorder (UCD). This X-linked genetic condition affects ureagenesis, displaying variable phenotypic expressions.

Ornithine transcarbamylase deficiency is a rare genetic condition that causes ammonia to build up in the blood. The condition – more commonly called OTC deficiency – is more common in boys than girls and tends to be more severe when symptoms emerge shortly after birth.

Jan 4, 2017 · Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen the body, a process known as the urea cycle.

Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Explore symptoms, inheritance, genetics of this condition.

Ornithine transcarbamylase, the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline.

Ornithine Transcarbamylase Deficiency (OTC) is an inherited disorder that results in high levels of ammonia in the blood. In its most severe and life-threatening form, OTC can present in boys and (rarely) in girls in the first 2-3 days of life and requires early and rapid recognition and treatment to …

Ornithine transcarbamylase (OTC, EC 2.1.3.3; also called ornithine carbamoyltransferase, OCT) is an evolutionary ancient enzyme, present in most organisms from bacteria to plants and vertebrates, and mostly encoded by a single nuclear gene.

Aug 29, 2013 · 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 partial deficiency) disease in males and females.

Jan 15, 2025 · Deficiency in ornithine transcarbamylase (OTC; also called ornithine carbamoyltransferase) is the most commonly occurring UCD with a frequency of approximately 1 case in every 14,000 live births. OTC deficiency is inherited as an X-linked disorder, classically referred to as X-linked recessive.