Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females. This month, we are featuring ornithine transcarbamylase (OTC) deficiency.
OTC deficiency is an X-linked genetic disorder marked by a complete or partial lack of the enzyme ornithine transcarbamylase. This results in the accumulation of ammonia in the bloodstream and causes complications in the nervous system, resulting in a range of severe to mild symptoms. Approximately 20% of OTC females experience symptoms. Some females do not express excess ammonia levels until pregnancy. Females who do develop symptoms in childhood often experience headaches after protein ingestion. A study determined that girls with OTC deficiency may exhibit episodes of hyperammonemic encephalopathy, or ammonia buildup in the brain, and cognitive decline.
Today, we are joined by Andrea Gropman, M.D., FAAP, FACMG, FANA. Dr. Gropman is the Chief of Neurogenetics and Neurodevelopmental Pediatrics at Children's National. She is also is the principal investigator of the Urea Cycle Disorders Consortium (UCDC) and the UCDC imaging consortium and the deputy clinical director of the Mito EpiGen Program. Her research interest focuses on establishing biomarkers of neurological injury in patients with inborn errors of metabolism, such as urea cycle disorders and mitochondrial disorders, using specialized neuroimaging modalities and cell markers.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
