Synonyms: OCT deficiency | OTC deficiency | Ornithine carbamoyltransferase deficiency
A rare genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe neonatal-onset disease found mainly in males or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Ornithine transcarbamylase deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Baine’s Legacy
Baine's Legacy's mission is to spread awareness of Ornithine Transcarbamylase Deficiency and find and educate at-risk families who may be unaware of the condition. We do this through fundraising events and helping others in the OTCD community.
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
flok Health (formerly National PKU News)
na
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.