Ornithine Transcarbamylase DeficiencySymptoms, Doctors, Treatments, Advances & More
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.
Children's National Hospital
Andrea Gropman is a Pediatrics provider practicing medicine in Washington, Washington, D.c.. Dr. Gropman is rated as an Elite provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. She is also highly rated in 39 other conditions, according to our data. Her clinical expertise encompasses Klinefelter Syndrome, Urea Cycle Disorders (UCD), MELAS Syndrome, Ornithine Transcarbamylase Deficiency, and Hormone Replacement Therapy (HRT).
Johannes Haberle practices practicing medicine in Zurich, Switzerland. Mr. Haberle is rated as an Elite expert by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, N-Acetylglutamate Synthase Deficiency, Citrullinemia, and Liver Transplant.
Alexander Laemmle practices practicing medicine in Bern, Switzerland. Mr. Laemmle is rated as an Elite expert by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Ornithine Transcarbamylase Deficiency, Urea Cycle Disorders (UCD), Vitamin B12 Deficiency, and Hypotonia.
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