Introduction to Ornithine Transcarbamylase Deficiency

Ornithine Transcarbamylase  (OTC) Deficiency will occur when there is a disorder in one's urea cycle and is one of the most common hereditary disorder. Urea cycle is also known as a series of reaction which takes place in the liver cells. This is usually due to the aggregation of ammonia. OTC is a mitochondrial enzyme which is part of the urea cycle. When there is OTC Deficiency, there is usually a missing or damaged enzyme that is used to initiate a reaction in the urea cycle. This causes nitrogen, produced when there is a usage of proteins by the body, to accumulate as ammonia thus causing hyperammonemia.

 This deficiency is more commonly seen in infants and children as compared to adults as there is a frequency of OTC Deficiency occurring 1 in every 80,000 births.

Children or infants with OTC Deficiency happens usually because either insufficient OTC or nonfunctional OTC are being produced. Thus, the body will have difficulty removing ammonia by urine as the OTC are not working properly. This will cause ammonia to accumulate in the body which is dangerous as high levels of ammonia is toxic. Ammonia is a neurotoxin is known to cause damages to the patient's nervous system. Thus, OTC deficiency will bound to cause the liver to be damaged and also to bring about neurological problems.

References:
http://ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency

Pictures:
http://books.google.com.sg/books?id=EnIl7KSNCrgC&pg=PA252&lpg=PA252&dq=what+is+ornithine+transcarbamylase+used+for&source=bl&ots=8N1NdTWU_V&sig=zSFjFx-Em_n7rDc_VUGxmGsv1FU&hl=en&sa=X&ei=Tg_AU-uyOoWwuATGhoCoDA&ved=0CEAQ6AEwBDgU#v=onepage&q=what%20is%20ornithine%20transcarbamylase%20used%20for&f=false

http://www.healingmatthew.com/page/2/