Ornithine Transcarbamylase Deficiency : Causes, Symptoms, Diagnosis And Treatment

Ornithine Transcarbamylase Deficiency (OTC Deficiency)

Ornithine Transcarbamylase Deficiency is a legacy disorder that causes the accumulation of ammonia in the blood. Ammonia, which is formed when the proteins are broken down in the body, if the level becomes too much then it is poisonous. The nervous system is particularly susceptible to the effects of extra ammonia.

Ornithine Transcarbamylase Deficiency can be manifest at any age. The most serious form occurs in the first few days of life. This neonatal form of disorder usually affects men; It is very rare in women. With the neonatal-initial form of a lack of Ornithine Transcarbamylase Deficiency, an infant may be reluctant to eat or eat food (sluggish), and may have a poorly controlled respiratory rate or body temperature. Babies with this disorder can be described as “floppy” and can experience trips or coma. Complications due to the lack of Ornithine Transcarbamylase Deficiency may include delay in development and intellectual inefficiency. Progressive liver damage can also occur.

In some affected individuals, signs and symptoms of lack of Ornithine Transcarbamylase Deficiency may be less severe, and later may not appear in life after. The late form of disorder occurs in both male and female. People who lack late Ornithine Transcarbamylase Deficiency may experience episodic changes in psychological conditions, such as confusion, irregular behavior or low level of consciousness. Deficiency in headache, vomiting, protein foods, and seizures can also be visited in this form.


The estimated circulation of the deficiency of Ornithine Transcarbamylase Deficiency is 14,000 out of 77,000 people and 1 in 1. People with neonatal-initial appearance of disorder are more likely to count in these estimates because people who start late are less likely to get medical attention.


Mutation in the OTC gene causes the deficiency of Ornithine Transcarbamylase Deficiency. OTC gene ordinance provides instructions for making Ornithine Transcarbamylase enzyme.

Ornithine Transcarbamylase Deficiency is related to a class of genetic disorders called urea cycle disorder. The urea cycle is a sequence of reactions occurring in the liver cells. It processes extra nitrogen, when the protein is used by the body, making a compound known as urea released from the kidney. The Ornithine Transcarbamylase enzyme initiates a specific reaction within the urea cycle.

In the absence of Ornithine Transcarbamylase Deficiency, as its name suggests, Ornithine Transcarbamylase enzyme is damaged or missing. Urea cycles can not progress normally, and nitrogen deposits in the form of ammonia in the blood pressure.

Ammonia is especially harmful to the nervous system, so the lack of Ornithine Transcarbamylase Deficiency causes the last loss of the liver, along with neurological problems.


Typically, the symptoms of Ornithine Transcarbamylase Deficiency (OTC deficiency) begin in childhood (early start form). The child with Ornithine Transcarbamylase Deficiency (OTC deficiency) may be lacking in energy (dull), should not be ready to eat, and there may be problems in breathing rate or body temperature. Some children of Ornithine Transcarbamylase Deficiency (OTC deficiency) go to experience trips, abnormal body activities, or coma. If the treatment is not done, then this form can cause complications including developing delay, intellectual inefficiency, progressive liver damage, skin problems and brittle hair. Symptoms can be triggered by eating high food in protein, illness, or steroids.

In some people with Ornithine Transcarbamylase Deficiency (OTC deficiency), symptoms and symptoms are less severe and later do not start till life (late form). Symptoms are triggered by the formation of ammonia and may include the following:
•  Confusion episodes, irregular behavior, or less consciousness
•  Headache.
•  Vomiting
•  A deviation for high food in protein.
•  Seizure


Diagnosis for genetic or rare disease can be challenging often. Healthcare professionals usually look at a person’s medical history, symptoms, physical examination, and laboratory test results to diagnose. The following resources provide information related to diagnosis and testing for this condition. If you have any questions about getting a diagnosis, then you should contact the healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about genetic tests for this condition. The target audience for GTR is healthcare providers and researchers. Patients and consumers with specific questions about genetic testing should contact a health care provider or geneticist.


The resources given below provide information about treatment options for this condition. If you have any questions about which treatment is right for you, talk to your healthcare professional.

Management Guideline

GeneReviews offers a current, expert-author, peer-review, full-text article urea cycle disorder that can be useful to you. Gene Review Articles describe the applications of genetic testing for the diagnosis, management and genetic counseling of patients with specific legacy conditions.
Ornithine Transcarbamylase Deficiency, the NORD Physician Guide was developed as a free service of the National Organization for Rare Diseases (NORD) and its Dental Consultants. The guide provides a resource for practitioners about specific rare disorders to facilitate the diagnosis and treatment of their patients with this condition.
Orphanet Emergency Guidelines is an article that is expert-writer and peer-reviewed, aimed at guiding health care professionals in emergency situations related to this situation.

2 thoughts on “Ornithine Transcarbamylase Deficiency : Causes, Symptoms, Diagnosis And Treatment

  1. I’m asking you to imagine that reality is stranger and more complicated than you or I could possibly know. And sometimes we get glimpses of it, in dreams or in déjà vu. #TheOA needs your help. #SaveTheOA

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