About OTCD:
Ornithine Transcarbamylase (OTC) Deficiency
Although manifestations of this disease vary, a typical patient diagnosed with this rare disorder, will likely suffer from this chronic and life-threatening Metabolic Disease—Urea Cycle Disorder. To help prevent the patient from advancing into a catabolic state, an internal Gastrointestinal Tube (G-Tube) may be placed and maintained in the abdomen for additional nutritional support.
The named disease is Ornithine Transcarbamylase Deficiency (OTCD). This condition's primary medical complication is Hyperammonemia. This severe condition causes blood-ammonia values to rise to toxic levels. In this occurrence, significant impaired cognition is manifested through an acute crisis of Hyperammonemia, Metabolic Encephalopathy, extensive Lethargy and severe Dehydration.
The episodes and frequency of this disease are unpredictable and presents without warning. Approximate episodes may occur about once a week to once every other week; and more frequently, if not properly managed. On the contrary, the occurrence of crisis episodes in which blood-ammonia levels increase, can be avoided for as long as one or more years, if the appropriate treatment is consistent. As such, it has been extremely difficult for some patients to thrive in a consistent manner in the area of cognition.
Often, such patients will be placed under a Special Education Individualized Education Plan (IEP) for schooling accommodations, in their academic pursuit. This Special Education IEP has been maintained. Due to the significance of this chronically severe condition; many patients are unable to maintain the consistent employment necessary to support their basic needs in life. Thus, these patients will sometimes request assistance in finding more suitable employment to accommodate their complex medical needs.
Written by: Nicole Renee Lyles, RN, CDS, LNC, ADV
Ornithine Transcarbamylase (OTC) Deficiency
Although manifestations of this disease vary, a typical patient diagnosed with this rare disorder, will likely suffer from this chronic and life-threatening Metabolic Disease—Urea Cycle Disorder. To help prevent the patient from advancing into a catabolic state, an internal Gastrointestinal Tube (G-Tube) may be placed and maintained in the abdomen for additional nutritional support.
The named disease is Ornithine Transcarbamylase Deficiency (OTCD). This condition's primary medical complication is Hyperammonemia. This severe condition causes blood-ammonia values to rise to toxic levels. In this occurrence, significant impaired cognition is manifested through an acute crisis of Hyperammonemia, Metabolic Encephalopathy, extensive Lethargy and severe Dehydration.
The episodes and frequency of this disease are unpredictable and presents without warning. Approximate episodes may occur about once a week to once every other week; and more frequently, if not properly managed. On the contrary, the occurrence of crisis episodes in which blood-ammonia levels increase, can be avoided for as long as one or more years, if the appropriate treatment is consistent. As such, it has been extremely difficult for some patients to thrive in a consistent manner in the area of cognition.
Often, such patients will be placed under a Special Education Individualized Education Plan (IEP) for schooling accommodations, in their academic pursuit. This Special Education IEP has been maintained. Due to the significance of this chronically severe condition; many patients are unable to maintain the consistent employment necessary to support their basic needs in life. Thus, these patients will sometimes request assistance in finding more suitable employment to accommodate their complex medical needs.
Written by: Nicole Renee Lyles, RN, CDS, LNC, ADV
Below, I have included a description of this Chronic Medical Condition for informational purposes:
Ornithine Transcarbamylase (OTC) Deficiency – Condition and Symptoms
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 breakdown and removal of nitrogen in the body, a process known as the urea cycle.
Ornithine Transcarbamylase (OTC) Deficiency is a rare genetic disorder. Normally symptoms are present within the first three days of life. These can include breathing difficulties, extreme exhaustion, feeding troubles and death (in untreated cases). OTC is an enzyme that helps break down and remove nitrogen from the body. Without this particular enzyme, ammonia can build up in the brain and blood causing hyperammonemia. This condition can cause delays in development and mental retardation.
OTC Deficiency occurs in approximately 1 out of 80,000 births. There is currently no cure for OTC Deficiency. Treatment of the disorder focuses on lessening the symptoms. This can include a low protein diet (often a vegetarian diet is recommended) in order to help the body better process the nitrogen and avoid migraine-like headaches, and in some cases in which an individual is comatose, hemodialysis is used. Hemodialysis is a procedure that helps remove waste products from the body when the kidneys can't do it themselves. This can help to rapidly reduce the amount of ammonia levels present in the blood.
Other treatment can include administering sodium benzoate, arginine and sodium phenyacetate to an individual intravenously. This must be done in a hospital setting in order to closely monitor the levels present in the body. Morbidity and mortality rates for this disorder are usually quite high. This is especially true for those with the neonatal form of the disease.
Clinical practice: the management of hyperammonemia.
Häberle J.
Source
Kinderspital Zurich, Division of Metabolism, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland. [email protected]
Ornithine Transcarbamylase (OTC) Deficiency – Condition and Symptoms
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 breakdown and removal of nitrogen in the body, a process known as the urea cycle.
Ornithine Transcarbamylase (OTC) Deficiency is a rare genetic disorder. Normally symptoms are present within the first three days of life. These can include breathing difficulties, extreme exhaustion, feeding troubles and death (in untreated cases). OTC is an enzyme that helps break down and remove nitrogen from the body. Without this particular enzyme, ammonia can build up in the brain and blood causing hyperammonemia. This condition can cause delays in development and mental retardation.
OTC Deficiency occurs in approximately 1 out of 80,000 births. There is currently no cure for OTC Deficiency. Treatment of the disorder focuses on lessening the symptoms. This can include a low protein diet (often a vegetarian diet is recommended) in order to help the body better process the nitrogen and avoid migraine-like headaches, and in some cases in which an individual is comatose, hemodialysis is used. Hemodialysis is a procedure that helps remove waste products from the body when the kidneys can't do it themselves. This can help to rapidly reduce the amount of ammonia levels present in the blood.
Other treatment can include administering sodium benzoate, arginine and sodium phenyacetate to an individual intravenously. This must be done in a hospital setting in order to closely monitor the levels present in the body. Morbidity and mortality rates for this disorder are usually quite high. This is especially true for those with the neonatal form of the disease.
Clinical practice: the management of hyperammonemia.
Häberle J.
Source
Kinderspital Zurich, Division of Metabolism, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland. [email protected]
Abstract
Hyperammonemia is a life-threatening condition which can affect patients at any age. Elevations of ammonia in plasma indicate its increased production and/or decreased detoxification. The hepatic urea cycle is the main pathway to detoxify ammonia; it can be defective due to an inherited enzyme deficiency or secondary to accumulated toxic metabolites or substrate depletion.
Clinical signs and symptoms in hyperammonemia are unspecific but they are mostly neurological. Thus, in any unexplained change in consciousness or in any unexplained encephalopathy, hyperammonemia must be excluded as fast as possible. Any delay in recognition and start of treatment of hyperammonemia may have deleterious consequences for the patient. Treatment largely depends on the underlying cause but is, at least in pediatric patients, mainly aimed at establishing anabolism to avoid endogenous protein breakdown and amino acid imbalances. In addition, pharmacological treatment options exist to improve urea cycle function or to remove nitrogen, but their use depend on the underlying disorder.
To improve the prognosis of acute hyperammonemia, an increased awareness of this condition is probably more needed than anything else. Likewise, the immediate start of appropriate therapy is of utmost importance. This review focuses on a better understanding of factors leading to ammonia elevations and on practical aspects related to diagnosis and treatment in order to improve clinical management of hyperammonemia.
PMID: 21165747
[PubMed - indexed for MEDLINE]
References:
US National Library of Medicine
National Institutes of Health
Disclaimer:
The medical information on this site is provided as an information resource only; and is not to be used or relied on for any diagnostic or treatment purposes. This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.
Please consult your health care provider for an appointment, before making any healthcare decisions or for guidance about a specific medical condition. The Brí Foundation expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. The Brí Foundation does not endorse specifically any test, treatment, or procedure mentioned on the site.
By visiting this site, you agree to the foregoing terms and conditions, which may from time to time, be changed or supplemented by The Brí Foundation. If you do not agree to the foregoing terms and conditions, you should not enter this site.
Hyperammonemia is a life-threatening condition which can affect patients at any age. Elevations of ammonia in plasma indicate its increased production and/or decreased detoxification. The hepatic urea cycle is the main pathway to detoxify ammonia; it can be defective due to an inherited enzyme deficiency or secondary to accumulated toxic metabolites or substrate depletion.
Clinical signs and symptoms in hyperammonemia are unspecific but they are mostly neurological. Thus, in any unexplained change in consciousness or in any unexplained encephalopathy, hyperammonemia must be excluded as fast as possible. Any delay in recognition and start of treatment of hyperammonemia may have deleterious consequences for the patient. Treatment largely depends on the underlying cause but is, at least in pediatric patients, mainly aimed at establishing anabolism to avoid endogenous protein breakdown and amino acid imbalances. In addition, pharmacological treatment options exist to improve urea cycle function or to remove nitrogen, but their use depend on the underlying disorder.
To improve the prognosis of acute hyperammonemia, an increased awareness of this condition is probably more needed than anything else. Likewise, the immediate start of appropriate therapy is of utmost importance. This review focuses on a better understanding of factors leading to ammonia elevations and on practical aspects related to diagnosis and treatment in order to improve clinical management of hyperammonemia.
PMID: 21165747
[PubMed - indexed for MEDLINE]
References:
US National Library of Medicine
National Institutes of Health
Disclaimer:
The medical information on this site is provided as an information resource only; and is not to be used or relied on for any diagnostic or treatment purposes. This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.
Please consult your health care provider for an appointment, before making any healthcare decisions or for guidance about a specific medical condition. The Brí Foundation expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. The Brí Foundation does not endorse specifically any test, treatment, or procedure mentioned on the site.
By visiting this site, you agree to the foregoing terms and conditions, which may from time to time, be changed or supplemented by The Brí Foundation. If you do not agree to the foregoing terms and conditions, you should not enter this site.