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.
Andrea Gropman is a Pediatric Neurologist and a Neurologist in Memphis, Tennessee. Dr. Gropman is rated as an Elite provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are Klinefelter Syndrome, Urea Cycle Disorders (UCD), MELAS Syndrome, Ornithine Transcarbamylase Deficiency, and Hormone Replacement Therapy (HRT).
Sharon Cunningham practices in Westmead, Australia. Cunningham is rated as an Elite expert by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Their top areas of expertise are Ornithine Transcarbamylase Deficiency, Urea Cycle Disorders (UCD), Orotic Aciduria Type 1, and Progressive Familial Intrahepatic Cholestasis Type 3.
Ian Alexander practices in Westmead, Australia. Mr. Alexander is rated as an Elite expert by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. His top areas of expertise are Ornithine Transcarbamylase Deficiency, Urea Cycle Disorders (UCD), Orotic Aciduria Type 1, X-Linked Severe Combined Immunodeficiency, and Liver Transplant.
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