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What is Ornithine Transcarbamylase Deficiency?

Ornithine Transcarbamylase Deficiency is part of a urea cycle disorder. A urea cycle disorder is a genetic disorder caused by a deficiency of one of the enzymes in the urea cycle. The urea cycle involves a series of biochemical steps that takes place in the liver, in which nitrogen, a component of protein, is removed from the blood and converted into urea. There are five steps to the urea cycle, each of them requiring a specific enzyme. When one of these enzymes is missing, nitrogen accumulates and is converted into ammonia, a highly toxic substance, instead of urea. Ammonia reaches the brain through the blood, where it may cause irreversible brain damage and/or death. Ornithine transcarbamylase is one of these deficiencies. Urea cycle disorders are tragic illnesses that are characterized by excessive amounts of ammonia in the blood. Without treatment, these disorders can cause behavioral disorders, mental retardation, coma, or even death.

What are the Symptoms?

As this relates to my son which first developed symptoms at the age of 17 months I will only deal with this disorder beginning during childhood. You can find more info at the
CHILDHOOD: Children with mild or moderate urea cycle enzyme deficiencies may not show symptoms until early childhood. Early symptoms may include hyperactive behavior, sometimes accompanied by screaming and self-injurious behavior, and refusal to eat meat or other high-protein foods. My son showed just about every one of these symptoms. Later symptoms may include frequent episodes of vomiting, especially following high-protein meals; lethargy and delirium; and finally, if the condition is undiagnosed and untreated, coma and death. Altho' it hasn't been proven conclusive we noticed that my son also had episodes following an ear infection. Children with this disorder may be referred to child psychologists because of their behavior and eating problems. Childhood episodes of hyperammonemia (high ammonia levels in the blood) may be brought on by viral illnesses including chickenpox, high-protein meals, or even exhaustion. The condition is sometimes misdiagnosed as Reye’s Syndrome. childhood onset can be seen in both boys and girls, but is more frequent in girls with OTC Deficiency.

Treatment

Currently my son is on L-Citrulline.. He takes 2 1/2 tsps. 3 times a day, and since it's in powder form he usually mixes it in a drink. There is a restriction of dietary protein (45 mg. a day) . The use of medications provide alternate pathways for ammonia removal from the blood. At the most extreme end of the spectrum, liver transplants have been done successfully as a cure to the disorder, but I praise the Lord that we haven't come to that. He's doing really well on L-Citrulline and has put on quite a bit of weight.

From the age of 3 to 6 he had almost 40 hyperammonemic episodes. We had a real battle on our hands with HMO's and I thank God for Dr. Frank Tang, our pediatrician for helping us as much as he could at that time. He really went out of his way despite the administrators of our primary group at that time. My family still has Dr. Tang to this day and he is the hub of all the doctors that I have to see for Neurosarcoidosis.

We eventually were able to go to Children's Hospital in San Diego where we finally received the care that was needed. They were the ones that put him on L-Citrulline, Dr. William Nyhan & Dr. Bruce Barshop. My son will be 11 this year and hasn't had an episode in almost 4 years!

If you'd like to learn more or find out all we went thru' email me. It was an uphill battle all the way with the HMO's and literally fighting for my son's life with all the red tape! I'd be glad to answer any questions. I will eventually put that info up on this site.

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