Tachypnea, vomiting, lethargy, loss of appetite, early morning headaches, and confusion.[1]
Complications
Liver failure, severe hyperammonemic encephalopathy, coma, death, intellectual, and physical disabilities.[1]
Causes
Genetic mutation.[1]
Diagnostic method
Liver function tests, genetic testing, and a liver biopsy.[1]
Differential diagnosis
urea cycle disorders, fulminant hepatitis, Citrin deficiency, and hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.[2]
Treatment
Hydration, arginine, and hemodialysis.[1]
Prognosis
50% of infants with OTC deficiency die.[1]
Frequency
1 in 14,000 to 1 in 77,000 people.[3]
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. 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. OTC deficiency is inherited in an X-linked recessive manner, meaning males are more commonly affected than females.
In severely affected individuals, ammonia concentrations increase rapidly causing ataxia, lethargy and death without rapid intervention. OTC deficiency is diagnosed using a combination of clinical findings and biochemical testing, while confirmation is often done using molecular genetics techniques.
Once an individual has been diagnosed, the treatment goal is to avoid precipitating episodes that can cause an increased ammonia concentration. The most common treatment combines a low protein diet with nitrogen scavenging agents. Liver transplant is considered curative for this disease. Experimental trials of gene therapy using adenoviral vectors resulted in the death of one participant, Jesse Gelsinger, and have been discontinued.
Ornithinetranscarbamylasedeficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithinetranscarbamylase, the defective...
Ornithinetranscarbamylase (OTC) (also called ornithine carbamoyltransferase) is an enzyme (EC 2.1.3.3) that catalyzes the reaction between carbamoyl...
abnormally accumulated in the body in ornithine transcarbamylasedeficiency. The radical is ornithyl. L-Ornithine is one of the products of the action of the...
Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism, caused by decreased...
clinical trial for gene therapy. Gelsinger suffered from ornithinetranscarbamylasedeficiency, an X-linked genetic disease of the liver, the symptoms...
the enzymes in the urea cycle. The most common example is ornithinetranscarbamylasedeficiency, which is inherited in an X-linked fashion. Secondary hyperammonemia...
to blockage of the urea cycle, particularly in ornithinetranscarbamylasedeficiency (OTC deficiency). This can be distinguished from hereditary orotic...
decreased BUN is ornithinetranscarbamylasedeficiency, which is a genetic disorder inherited in an X-linked recessive pattern. OTC deficiency is also accompanied...
18-year-old named Jesse Gelsinger who had the genetic disease ornithinetranscarbamylasedeficiency, died from an immune response after being treated with a...
the chest and stomach. A similar condition is linked to OrnithineTranscarbamylaseDeficiency in mice. Barr body Bicolor cat Calico cat Deaf white cat...
a metabolic disorder, such as a urea cycle disorder. In ornithinetranscarbamylasedeficiency, an X-linked inherited and the most common urea cycle disorder...
over House's importance to the hospital. Final diagnosis: Ornithinetranscarbamylasedeficiency 16 16 "Heavy" Fred Gerber Thomas L. Moran March 29, 2005 (2005-03-29)...
a subsequent deficiency in the production of carbamoyl phosphate has been linked to hyperammonemia in humans. Ornithinetranscarbamylase Citrulline Urea...
Gelsinger in a trial of an adenovirus-vectored treatment for ornithinetranscarbamylasedeficiency due to a systemic inflammatory reaction led to a temporary...
Proximal urea cycle defects, such as ornithinetranscarbamylasedeficiency and carbamoyl phosphate synthetase deficiency are not included in newborn screening...
OTCD may refer to: Ornithinetranscarbamylasedeficiency Over-the-counter data Over-the-counter derivative, see over-the-counter (finance) Over-the-counter...
with one daughter at the time of his death. A son with ornithinetranscarbamylasedeficiency predeceased him during surgery at the Hôpital des Enfants-Malades...
used in the past to treat genetic liver diseases such as ornithinetranscarbamylasedeficiency, familial hypercholesterolemia, and Crigler–Najjar syndrome...
(scAAV8)-encoding human ornithinetranscarbamylase". It is developed by Dimension Therapeutics for ornithinetranscarbamylase (OTC) deficiency. Wang, Lili; Warzecha...
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