Ornithine Transcarbamylase Deficiency Overview
Learn About Ornithine Transcarbamylase Deficiency
Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
Mutations in the OTC gene cause ornithine transcarbamylase deficiency. The OTC gene provides instructions for making the ornithine transcarbamylase enzyme.
Estimates of the prevalence of ornithine transcarbamylase deficiency have ranged from 1 in 14,000 to 1 in 77,000 people. Individuals with the neonatal-onset form of the disorder are more likely to be counted in these estimates, because people with the late-onset form are less likely to come to medical attention.
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.
Renata Gallagher is a Medical Genetics specialist and a Pediatrics provider in San Francisco, California. Dr. Gallagher and is rated as an Advanced provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, Multiple Sulfatase Deficiency, and Megalencephalic Leukoencephalopathy with Subcortical Cysts.
Lpch Medical Group Div Of Lucile
Gregory Enns is a Medical Genetics specialist and a Pediatrics provider in Palo Alto, California. Dr. Enns and is rated as a Distinguished provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Methylmalonic Acidemia, Cholesteryl Ester Storage Disease, and Arginase Deficiency. Dr. Enns is currently accepting new patients.
Lpch Medical Group Div Of Lucile
Chung Lee is a Medical Genetics specialist and a Pediatrics provider in Palo Alto, California. Dr. Lee has been practicing medicine for over 17 years and is rated as an Advanced provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are Ornithine Transcarbamylase Deficiency, Ornithine Translocase Deficiency, Krabbe Disease, and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.
Summary: Evaluate the safety and pharmacodynamics of multiple doses of ARCT-810 in adolescent and adult participants with OTC deficiency.
Summary: Ornithine transcarbamylase deficiency (OTCD) is an inherited metabolic liver disease which means that the body cannot maintain normal levels of ammonia. Ammonia levels can rise (called hyperammonaemic decompensations) which can be life-threatening and may result in impaired neurological development in children. OTCD is a rare genetic disorder characterised by complete or partial lack of the enzyme...
Published Date: October 01, 2017
Published By: National Institutes of Health