Question: How many people are affected by ornithine transcarbamylase deficiency ?
Answer: Ornithine transcarbamylase deficiency is believed to occur in approximately 1 in every 80,000 people.
Source: GHR

Question: What are the genetic changes related to ornithine transcarbamylase deficiency ?
Answer: Mutations in the OTC gene cause ornithine transcarbamylase deficiency. Ornithine transcarbamylase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. In ornithine transcarbamylase deficiency, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, so ornithine transcarbamylase deficiency causes neurological problems as well as eventual damage to the liver.
Source: GHR

Question: Is ornithine transcarbamylase deficiency inherited ?
Answer: Ornithine transcarbamylase deficiency is an X-linked disorder. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), mutations in both copies of the gene will cause the disorder. Some females with only one altered copy of the OTC gene also show signs and symptoms of ornithine transcarbamylase deficiency.
Source: GHR

Question: What are the treatments for ornithine transcarbamylase deficiency ?
Answer: These resources address the diagnosis or management of ornithine transcarbamylase deficiency: - Baby's First Test - Gene Review: Gene Review: Ornithine Transcarbamylase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Ornithine carbamoyltransferase deficiency - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR